Materiały źródłowe

• #1

  https://www.nhs.uk/conditions/childhood-cataracts/

  Cataracts occur when changes in the lens of the eye cause it to become less transparent (clear). This results in cloudy or misty vision. […] Cataracts in babies and children are rare. In the UK, around 3 to 4 in every 10,000 babies are born with cataracts. […] There are a number of reasons why a child may be born with cataracts or develop them while they’re still young. But in many cases it is not possible to determine the exact cause. Possible causes include: a genetic fault inherited from the child’s parents that caused the lens to develop abnormally, certain genetic conditions, including Down’s syndrome, certain infections picked up by the mother during pregnancy, including rubella and chickenpox, an injury to the eye after birth. […] Cataracts that affect vision that are not quickly treated can sometimes cause irreversible damage to eyesight, including a permanently lazy eye and even blindness in severe cases. […] It’s not usually possible to prevent cataracts, particularly those that are inherited (run in the family).

• #2 The paediatric cataract: an overview of the embryology and pathophysiology | Eye News

  https://www.eyenews.uk.com/education/trainees/post/the-paediatric-cataract-an-overview-of-the-embryology-and-pathophysiology

  Cataracts arise from opacification of the natural transparent lens, which can cause partial or total blindness. […] The pathogenesis of cataract formation in childhood is not completely understood. However, there are a range of causes thought to be associated with congenital and developmental cataracts. […] The pathogenesis is not fully understood, but genetic mutation, metabolic disease and oxidative damage are thought to be some causes of cataract formation in childhood.

• #3

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  However, a significant proportion is due to mutations in the genes encoding lens proteins that directly affect their role within the lens. […] The proportion of cataract due to genetic mutations is likely higher than we think because many patients are not tested and there are more cataract causing genes to be discovered. […] It is possible to identify a genetic mutation in up to 90% of cases of bilateral cataract with current genetic testing. […] There is substantial genetic and phenotypic heterogeneity with significant intra- and inter-familial variability. […] Mutations in genes encoding lens proteins can also demonstrate pleiotropic effects for example, NHS gene, which causes NanceHoran syndrome has a complex pattern of temporally and spatially regulated gene expression involving the development of ocular, craniofacial and neural tissue.

• #4

  https://www.nhs.uk/conditions/childhood-cataracts/causes/

  There are a number of reasons why a child may be born with cataracts or develop them while they’re still young. […] Cataracts present from birth (congenital cataracts) are sometimes caused by a faulty gene being passed to a child from their parents. […] Recent research suggests genetic causes are responsible for the majority of bilateral congenital cataracts in the UK. […] Congenital cataracts can also be caused by infections caught by the mother during pregnancy. […] Cataracts that develop in children after they’re born are known as acquired, infantile or juvenile cataracts. […] Causes of this type of cataracts can include: galactosaemia where the sugar galactose (which mainly comes from lactose, the sugar in milk) cannot be broken down by the body, diabetes a lifelong condition that causes a person’s blood sugar level to become too high, eye trauma as a result of an injury to the eye or eye surgery, toxocariasis a rare parasitic infection that can sometimes infect the eyes, spread from animals to humans via their infected faeces.

• #5 Focus on molecular mechanisms underlying cataract development

  https://www.ophthalmologytimes.com/view/focus-on-molecular-mechanisms-underlying-cataract-development

  Identifying the genetic variants causing congenital cataracts has not only improved our understanding of the pathogenesis of infantile cataracts, the most frequent treatable cause of childhood blindness, but also their more common counterpart, adult-onset cataracts. […] Childhood cataracts may occur in isolation associated with other ocular abnormalities, such as anterior segment mesenchymal dysgenesis due to variants in transcription or development factors, or be a part of multisystem genetic disorders. Nearly half of congenital cataracts are characterized as inherited and they are a clinical feature of almost 200 syndromic genetic diseases. […] To date, 356 genes have been found to be associated with syndromic and nonsyndromic cataracts and nearly 50 disease-causing genes have been identified as being associated with isolated cataracts. […] The identification of genetic variants causing congenital cataracts and the elucidation of their impact on the lens is of vital importance to develop new therapies for cataracts.

• #6 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology

  https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377

  Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis. […] Many genes have been identified in the molecular etiology of congenital cataract. Most mutations have been reported in the crystallin genes. […] Determining the molecular etiology of congenital cataract is essential both to identify and better understand the pathways involved in its pathogenesis and to provide individualized genetic counseling. […] Congenital cataract is characterized by genetic heterogeneity and variable inheritance patterns. […] Although the inheritance of congenital cataract is usually autosomal dominant, in rare cases it may be autosomal recessive or X-linked.

• #7 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Pediatric cataracts have diverse causes, including heritable genetic defects, fetal or childhood developmental insults, and associated systemic syndromes. The autosomal dominant inheritance type is commonly seen in hereditary cataracts. A genetic screening study in Australia identified as many as 51 genes and loci. Mutations in genes coding for transcription proteins like PAX6, FoxE3, C-MAF, PITX3, MIP, and CRYAA are frequent. Crystallin and connexin mutations are also seen in most cases. […] Pediatric cataracts cloud the eye’s natural lens, impairing vision. The multifaceted pathophysiology involves genetic, metabolic, infectious, and environmental factors that disrupt the lens’s normal transparency and function. […] Genetic factors play a crucial role in pediatric cataracts, with a significant proportion being hereditary and often following an autosomal dominant pattern. Mutations in genes responsible for the structure and function of lens proteins, such as crystallins, connexins, and transcription factors, lead to lens opacification. Crystallins maintain lens transparency and refractive properties, and mutations in these proteins can cause various cataracts, including nuclear, lamellar, zonular, and posterior polar cataracts. Connexins are essential gap junction proteins for cell communication within the lens. Mutated connexins disrupt lens cell homeostasis and transparency. Transcription factors, such as PITX3 and PAX6, are also critical. Mutations in these genes are linked to posterior polar and anterior polar cataracts, respectively, affecting lens development and maintenance.

• #8 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology

  https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377

  Determining the genetic etiology of congenital cataract in a family member enables a molecular diagnosis to be established and opens the possibility of prenatal diagnosis in pregnancies to be planned in the same or following generations. […] Crystallins comprise over 90% of the lens proteins and have the most fundamental place in the lens structure. […] Crystallin mutations have been associated with congenital cataracts of varying phenotype. […] Mutations in crystallin genes account for approximately 50% of autosomal dominant cataracts. […] This group includes connexins, aquaporins, and other cell membrane proteins that enable intercellular communication. […] Congenital cataracts have also been reported in mutations affecting major intrinsic protein, connexin 46 and 50, and LIM-2 proteins.

• #9

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  For some cataract-associated genes, the resulting phenotype can vary widely depending on the localisation of the respective nucleotide change. […] The main lens proteins associated with congenital cataract include crystallins, membrane proteins, cytoskeletal structural proteins and transcription factors. […] Some of these genes are also involved in the development of other ocular structures; hence in approximately 15% of cases mutations can lead to associated eye abnormalities. […] Approximately 50% of non-syndromic hereditary cataract are due to mutations in genes coding for crystallin proteins with over 100 mutations, mostly missense, encoding 12 different human , and -crystallin genes. […] Genetic mutations associated with cataract and other ocular malformations. […] Mutations in genes encoding major intrinsic proteins account for 5% of all inherited cataract.

• #10

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  Aquaporin-0 is the most expressed membrane protein in the human lens and variants are inherited in an autosomal dominant pattern producing a variety of cataract phenotypes. […] Heat shock transcription factor 4 (HSF4) protects lens proteins from cell stressors and has a regulatory role in the differentiation of lens fibre cells. […] Mutations in HSF4 most often produce lamellar cataract, which can be present at birth or develop in early childhood, and can be inherited in a dominant or recessive mode. […] Syndromic congenital cataract manifests as a result of various types of mutations, including chromosomal abnormalities, loss-of-heterozygosity, mitochondrial disorders, triplet repeat disorders and more complex genetic disorders such as diabetes. […] Cataracts show phenotypic variability and are associated with a myriad of systemic dysmorphic features. […] Metabolic disorders are an important differential in the cause of congenital cataract, and these are often inherited in an autosomal recessive pattern. […] Several rare autosomal recessive conditions are associated with the development of cataract.

• #11 Congenital cataracts – a literature review

  https://www.termedia.pl/Congenital-cataracts-a-literature-review,127,51990,1,1.html

  Mutations in genes encoding crystallins: We distinguish alpha, beta, and gamma crystallins. Alpha-crystallins have distinct protective roles in preventing the precipitation of denatured proteins and promoting resistance of cells to stress. Alpha-crystallins are members of the small heat shock protein family and they function as chaperonins. Beta and gamma crystallins are part of a large protein family that includes spoor coat proteins in bacteria. Also, the taxon-specific crystallins have been discovered, which are associated with various metabolic enzymes and together form a class called enzyme-crystallins. […] Mutations in genes encoding lens membrane proteins: Lens membrane proteins are important in intercellular communication such as connexins, which take part in lens microcirculation and are responsible for delivering nutrients toward the center of the lens and draining unwanted byproducts to the periphery, and aquaporins, which function mainly as water channels.

• #12 Congenital cataracts – a literature review

  https://www.termedia.pl/Congenital-cataracts-a-literature-review,127,51990,1,1.html

  Mutations in genes encoding cytoskeletal structural proteins: Beaded filament structural proteins (BFSP) belong to intermediate filament proteins and together with crystallins form part of the highly organized cytoskeleton and play a role in lens development. They are made up of BFSP1 (filensin) and BFSP2 (phakinin). These proteins are encoded by their corresponding genes BFSP1 and BFSP2. Mutations in both genes, BFSP1 and BFSP2, can cause variety of types of congenital and pediatric cataracts with both AD and AR inheritance pattern. […] Other possible examples of mutations in genes: ITX3 (paired-like homeodomain 3), PAX6 (paired box 6), and HSF-4 (heat shock protein factor-4). A complete list of possible mutations is provided in Cat-Map, which is an online chromosome map and reference database for inherited and age-related forms of cataract. The most common causative groups are mutations in genes encoding crystallins (33%), developmental and transcription factors (26%), connexins (18%), membrane proteins and transporters (11%), intermediate filament proteins (4%) and others. In addition, the metabolic basis can be distinguished, including disorders such as hyperglycinuria, diabetes, and galactosemia. Some of the non-genetic causes of congenital cataract are: intrauterine infections with herpes simplex virus (HSV), rubella virus, Toxoplasma gondii, and others, physical trauma, radiation and drug exposure (e.g. steroids) during pregnancy. Congenital cataracts may also be a part of a multisystem disorder. Common syndromes associated with congenital cataracts are Alport syndrome, Hallermann-Streiff-Francois syndrome, Lowe syndrome, Smith-Lemli-Opitz syndrome and others. All of the above are the primary known causes of congenital cataracts; however, many cases, especially unilateral congenital cataracts, remain idiopathic.

• #13 Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches | British Journal of Ophthalmology

  https://bjo.bmj.com/content/104/10/1331

  Cataract is the most common cause of blindness in the world; during infancy and early childhood, it frequently results in visual impairment. Congenital cataracts are phenotypically and genotypically heterogeneous and can occur in isolation or in association with other systemic disorders. Significant progress has been made in identifying the molecular genetic basis of cataract; 115 genes to date have been found to be associated with syndromic and non-syndromic cataract and 38 disease-causing genes have been identified to date to be associated with isolated cataract. […] Over the last 10 years, enormous progress has been made in elucidating the molecular basis of congenital cataract, with causative mutations identified in genes encoding many different proteins including intracellular lens proteins (crystallins), membrane gap junction proteins (connexins), water channel proteins (aquaporins), cytoskeletal proteins (eg, BFSP1 (filensin), BFSP2 (phakinin) and vimentin) and transcription factors (TFs) (eg, FOXE3, PAX6, PITX3 and MAFA).

• #14

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  Worldwide 20,00040,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. […] In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. […] Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. […] Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. […] Cataract develops due to disruption of the normal lens protein structure or function, resulting in opacity. […] This may occur as a result of stressors applied to lens proteins including those acquired in utero or during childhood.

• #15 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  The mechanisms underlying lens opacification are multifaceted and encompass various biological processes. Protein aggregation, resulting from mutations or metabolic imbalances, causes crystallin proteins to unfold and aggregate, leading to light scattering and lens opacity. Osmotic imbalances, seen in conditions like diabetes and galactosemia, prompt the accumulation of osmotic agents within the lens, triggering cell swelling, membrane rupture, and protein leakage. Calcium homeostasis disruptions further contribute to lens opacity by affecting cell signaling and protein stability. […] Inflammatory responses elicited by infections or trauma can damage lens cells and proteins, further exacerbating cataract formation. Given the complexity of pediatric cataracts’ pathophysiology, which involves genetic mutations, metabolic disturbances, infections, drug effects, trauma, and environmental influences, comprehending these mechanisms is essential for devising effective preventive and therapeutic interventions to preserve vision in affected children.

• #16 Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation

  https://www.mdpi.com/2218-273X/13/5/864

  G149V point missense mutation in βB2-crystallin was first identified in a three-generation Chinese family with two affected members diagnosed with CC. […] The study discovered that the mutant protein may have a higher hydrophobicity that influences the structure and function of the protein, leading to opacity in the optic lens. […] The G149V mutation made the protein structure loose and the interaction between oligomers was reduced, which decreased the stability of the protein. […] The G149V mutation significantly changed the secondary and tertiary structure of βB2-crystallin. […] The polarity of the tryptophan microenvironment and the surface hydrophobicity of the mutant protein increased. […] Under the stress of thermal, oxidation, and UV irradiation, the protein was more likely to aggregate and form precipitation.

• #17 Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation

  https://www.mdpi.com/2218-273X/13/5/864

  Our observations strongly suggest that the accumulation and deposition of crystallin was a common pathological feature of various cataracts. […] The G149V mutation led to a significant increase in the exposure of surface exposed, hydrophobic surface area when compared to the WT protein by spectroscopic experiments. […] The G149V mutation had also been found to have deleterious effects on βB2-crystallin structure, thermal stability, resistance to UV light, and oxidative stress. […] In summary, the results of our study demonstrate that the mutations in βB2-crystallin may lead to cataracts by altering the native structure/surface properties, decreasing the stability, promoting aggregation, and/or increasing its sensitivity against the UV irradiation, oxidative stress, and thermal stability.

• #18 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  The mechanisms underlying lens opacification are multifaceted and encompass various biological processes. Protein aggregation, resulting from mutations or metabolic imbalances, causes crystallin proteins to unfold and aggregate, leading to light scattering and lens opacity. Osmotic imbalances, seen in conditions like diabetes and galactosemia, prompt the accumulation of osmotic agents within the lens, triggering cell swelling, membrane rupture, and protein leakage. Calcium homeostasis disruptions further contribute to lens opacity by affecting cell signaling and protein stability. […] Inflammatory responses elicited by infections or trauma can damage lens cells and proteins, further exacerbating cataract formation. Given the complexity of pediatric cataracts’ pathophysiology, which involves genetic mutations, metabolic disturbances, infections, drug effects, trauma, and environmental influences, comprehending these mechanisms is essential for devising effective preventive and therapeutic interventions to preserve vision in affected children.

• #19 Cataract – Wikipedia

  https://en.wikipedia.org/wiki/Cataract

  Cataract formation is primarily driven by oxidative stress, which damages lens proteins, leading to their aggregation and the accumulation of clumps of protein or yellow-brown pigment in the lens. This reduces the transmission of light to the retina at the back of the eye, impairing vision. Additionally, alterations in the lens’s metabolic processes, including imbalances in calcium and other ions, contribute to cataract development.[11][1] […] Oxidative stress associated with lipid peroxidation is an important pathogenic mechanism in cataract formation.[22][23] Senile cataracts are associated with a decrease in antioxidant capacity in the lens.[22] An increase in oxidative stress in the lens or a decrease in the ability to remove reactive oxygen species can lead to the lens becoming more opaque.[22]

• #20

  https://journals.lww.com/ijo/fulltext/2014/62020/etiopathogenesis_of_cataract__an_appraisal.2.aspx

  It is widely accepted that oxidative stress is a significant factor in the genesis of cataract, both in experimental animals and in cultured lens models. The oxidative processes rise with age in the human lens, and concentration of proteins found significantly higher in cataractous lenses. […] The composition and metabolism of membrane lipids may affect the formation of various types of cataracts. Lens membrane contains the highest cholesterol content of any known membrane. The development of cataract is associated with increased accumulation and re-distribution of cholesterol inside these cells. […] A cataract can form after blunt or penetrating injuries to the eye and entry of a difficult-to-remove foreign object, leads to physical damage and discontinuation of the eye lens capsule. […] This term refers to cataracts that are secondary to local eye as well as systematic inflammatory and degenerative diseases.

• #21 Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation

  https://www.mdpi.com/2218-273X/13/5/864

  In this study, we found that the G149V mutation affected the secondary and tertiary structure of the protein, loosened the protein structure, destroyed the Greek-key motif, disturbed the interaction between oligomers, increased the sensitivity to stressors including oxidative, UV, and heat shock, and formed abnormal aggregates.

• #22 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Metabolic disorders significantly contribute to pediatric cataracts. Diabetes mellitus causes high blood glucose levels, leading to osmotic imbalances in the lens that result in swelling and vacuole formation, contributing to cataract formation. In galactosemia, the accumulation of galactitol due to deficient galactose metabolism causes osmotic stress and the formation of oil droplet cataracts. Hypocalcemia, characterized by low calcium levels, can disrupt lens cell function and protein stability, leading to cataractogenesis. Fabry disease, a lysosomal storage disorder, results in the accumulation of glycosphingolipids, causing spoke-like cataracts. […] Maternal and congenital infections, particularly TORCH infections, can lead to congenital cataracts in newborns. These infections cause inflammation and damage the developing lens during pregnancy, producing lens opacification.

• #23 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Metabolic disorders significantly contribute to pediatric cataracts. Diabetes mellitus causes high blood glucose levels, leading to osmotic imbalances in the lens that result in swelling and vacuole formation, contributing to cataract formation. In galactosemia, the accumulation of galactitol due to deficient galactose metabolism causes osmotic stress and the formation of oil droplet cataracts. Hypocalcemia, characterized by low calcium levels, can disrupt lens cell function and protein stability, leading to cataractogenesis. Fabry disease, a lysosomal storage disorder, results in the accumulation of glycosphingolipids, causing spoke-like cataracts. […] Maternal and congenital infections, particularly TORCH infections, can lead to congenital cataracts in newborns. These infections cause inflammation and damage the developing lens during pregnancy, producing lens opacification.

• #24 EyeRounds.org: Diabetic White Cataract

  https://webeye.ophth.uiowa.edu/eyeforum/cases/304-Diabetic_White_Cataract.htm

  Cataracts are a well-known consequence of untreated diabetes mellitus, and a common cause of visual impairment. Cataracts are 3-4 times more common in young diabetic patients compared to their non-diabetic counterparts. […] While several mechanisms have been proposed to explain the earlier and more rapid onset of cataracts in diabetic patients, the primary risk factors include poor glycemic control and longer duration of disease. […] The activation of the polyol (sorbitol) pathway of intralenticular glucose metabolism in chronic states of hyperglycemia is thought to play a crucial role in the development of the diabetic cataract. […] Under these conditions, excess glucose overwhelms the traditional pathways and thus is shunted towards the polyol, or sorbitol, pathway within the lens.

• #25 EyeRounds.org: Diabetic White Cataract

  https://webeye.ophth.uiowa.edu/eyeforum/cases/304-Diabetic_White_Cataract.htm

  Eventually, retained sorbitol and fructose increases the osmotic pressure within the lens, causing lens fiber swelling and opacification, both contributing to the development of a white cataract. […] Longstanding hyperglycemia may lead to the formation of a hypermature cataract, hallmarked by the degeneration of cortical material into a hyperosmotic liquid. […] These metabolic disturbances of untreated type 1 diabetes can affect the crystalline lens in a myriad of ways, including reducing lens clarity, altering the refractive index, and impairing accommodation. […] Diabetic cataracts typically begin with diffuse subcapsular changes with subsequent vacuole and cleft formation in the adjacent cortex. […] Maturation into a dense, white, possibly intumescent cataract typically can occur with longstanding poor glycemic control.

• #26 Diabetes cataract in a 10-year-old girl with new-onset type 1 diabetes mellitus | BMJ Case Reports

  https://casereports.bmj.com/content/12/1/e227437

  Cataract is a rare early ocular complication of T1DM in paediatric patients with an estimated prevalence of 0.7%3.4%1 and going up as high as 16% in patients of Haitian or African descent.2 It is mostly seen in adolescent patients with the youngest patient reported at 5 years of age. […] Activation of the polyol pathway and acute osmotic stress due to hyperglycaemia are implicated in the opacification of the lens in patients with diabetes. The specific pathophysiological mechanism of cataract formation early in the course of T1DM has yet to be established, however, it has been associated with longer prodromal periods and higher HbA1c (12%) on diagnosis.3 The morphology of cataracts found in the younger patients with T1DM has been described as scattered opacities in the equatorial region of the lens (snowstorm cataract) which progress rapidly over the course of weeks or months.4

• #27 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Metabolic disorders significantly contribute to pediatric cataracts. Diabetes mellitus causes high blood glucose levels, leading to osmotic imbalances in the lens that result in swelling and vacuole formation, contributing to cataract formation. In galactosemia, the accumulation of galactitol due to deficient galactose metabolism causes osmotic stress and the formation of oil droplet cataracts. Hypocalcemia, characterized by low calcium levels, can disrupt lens cell function and protein stability, leading to cataractogenesis. Fabry disease, a lysosomal storage disorder, results in the accumulation of glycosphingolipids, causing spoke-like cataracts. […] Maternal and congenital infections, particularly TORCH infections, can lead to congenital cataracts in newborns. These infections cause inflammation and damage the developing lens during pregnancy, producing lens opacification.

• #28 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Metabolic disorders significantly contribute to pediatric cataracts. Diabetes mellitus causes high blood glucose levels, leading to osmotic imbalances in the lens that result in swelling and vacuole formation, contributing to cataract formation. In galactosemia, the accumulation of galactitol due to deficient galactose metabolism causes osmotic stress and the formation of oil droplet cataracts. Hypocalcemia, characterized by low calcium levels, can disrupt lens cell function and protein stability, leading to cataractogenesis. Fabry disease, a lysosomal storage disorder, results in the accumulation of glycosphingolipids, causing spoke-like cataracts. […] Maternal and congenital infections, particularly TORCH infections, can lead to congenital cataracts in newborns. These infections cause inflammation and damage the developing lens during pregnancy, producing lens opacification.

• #29 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Metabolic disorders significantly contribute to pediatric cataracts. Diabetes mellitus causes high blood glucose levels, leading to osmotic imbalances in the lens that result in swelling and vacuole formation, contributing to cataract formation. In galactosemia, the accumulation of galactitol due to deficient galactose metabolism causes osmotic stress and the formation of oil droplet cataracts. Hypocalcemia, characterized by low calcium levels, can disrupt lens cell function and protein stability, leading to cataractogenesis. Fabry disease, a lysosomal storage disorder, results in the accumulation of glycosphingolipids, causing spoke-like cataracts. […] Maternal and congenital infections, particularly TORCH infections, can lead to congenital cataracts in newborns. These infections cause inflammation and damage the developing lens during pregnancy, producing lens opacification.

• #30 Detection of TORCH pathogens in children with congenital cataracts

  https://www.spandidos-publications.com/10.3892/etm.2016.3348

  The aim of the present study was to investigate the correlation between infection rates with TORCH pathogens including toxoplasma, rubella virus, cytomegalovirus, and herpes simplex virus (HSV) I and II and congenital cataracts. […] Congenital cataract is a severe eye disease with a complex pathogenesis that causes blindness in children. The development of genomics research has allowed the in-depth study of the cataract pathogenesis. […] During embryogenesis, viral and parasitic infections may influence the development of congenital cataract. […] Infections with TORCH pathogens such as HSV may affect the ectodermal tissues, from which the lens is derived. The author assumes that lens opacification after birth and existence of additional factors are likely the result of intrauterine TORCH infections, which can be identified by the detection of maternal IgG antibodies in the baby.

• #31 Detection of TORCH pathogens in children with congenital cataracts

  https://www.spandidos-publications.com/10.3892/etm.2016.3348

  The aim of the present study was to investigate the correlation between infection rates with TORCH pathogens including toxoplasma, rubella virus, cytomegalovirus, and herpes simplex virus (HSV) I and II and congenital cataracts. […] Congenital cataract is a severe eye disease with a complex pathogenesis that causes blindness in children. The development of genomics research has allowed the in-depth study of the cataract pathogenesis. […] During embryogenesis, viral and parasitic infections may influence the development of congenital cataract. […] Infections with TORCH pathogens such as HSV may affect the ectodermal tissues, from which the lens is derived. The author assumes that lens opacification after birth and existence of additional factors are likely the result of intrauterine TORCH infections, which can be identified by the detection of maternal IgG antibodies in the baby.

• #32 Detection of TORCH pathogens in children with congenital cataracts

  https://www.spandidos-publications.com/10.3892/etm.2016.3348

  However, IgG and IgM antibodies after birth are derived from the immune response generated by self-infection in children; therefore, the presence of IgM antibodies after birth may not be sufficient to definitively correlate the presence of TORCH pathogens with the development of congenital cataracts. […] The results of the analysis of both IgG and IgM antibodies in the present study correlated with the results of Mahalakshmi et al. […] Some children with congenital cataract at birth have transparent lens, and these children typically have TORCH pathogens marked by IgM. These children are likely to have an intrauterine infection or a mother with an infection, and may harbor disease-causing viruses but without detectable clinical symptoms. […] Based on independent viral infection rates, Malathi et al. suggested that 10% of congenital cataracts were due to RV infection, and that IgM antibodies in children 6 months of age with congenital cataracts may be associated with RV.

• #33 Detection of TORCH pathogens in children with congenital cataracts

  https://www.spandidos-publications.com/10.3892/etm.2016.3348

  Given the higher levels of anti-CMV antibodies in the cataract group compared with the control group in the current study (CMV IgM: 15.50 vs. 11.80%; CMV-IgG: 23.20 vs. 17.00%) we recommend preventive treatment. […] In the present study, there were no significant differences in the expression levels of TORCH pathogenic antibodies among children with monocular and binocular congenital cataracts.

• #34 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Drug-induced cataracts can result from prolonged use of certain medications. Corticosteroids, for example, can alter lens metabolism and protein structure, leading to posterior subcapsular cataracts. Other medications, such as miotics, chlorpromazine, and amiodarone, can cause lens opacities through mechanisms like oxidative stress and interference with lens cell function. Trauma to the eye, whether accidental or intentional, can also cause cataracts. Mechanical injury disrupts the lens capsule, allowing fluid entry and protein denaturation, resulting in cataract formation. […] Environmental and nutritional factors play significant roles in the development of pediatric cataracts. Prolonged exposure to ultraviolet radiation and other environmental stressors can heighten oxidative stress in the lens. This increased oxidative stress damages proteins and lipids within the lens, ultimately forming cataracts. Additionally, deficiencies in essential nutrients, particularly antioxidants like vitamins C and E, can compromise the overall health of the lens. Such deficiencies weaken the lens’s ability to combat oxidative damage and contribute to the progression of cataracts.

• #35 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Drug-induced cataracts can result from prolonged use of certain medications. Corticosteroids, for example, can alter lens metabolism and protein structure, leading to posterior subcapsular cataracts. Other medications, such as miotics, chlorpromazine, and amiodarone, can cause lens opacities through mechanisms like oxidative stress and interference with lens cell function. Trauma to the eye, whether accidental or intentional, can also cause cataracts. Mechanical injury disrupts the lens capsule, allowing fluid entry and protein denaturation, resulting in cataract formation. […] Environmental and nutritional factors play significant roles in the development of pediatric cataracts. Prolonged exposure to ultraviolet radiation and other environmental stressors can heighten oxidative stress in the lens. This increased oxidative stress damages proteins and lipids within the lens, ultimately forming cataracts. Additionally, deficiencies in essential nutrients, particularly antioxidants like vitamins C and E, can compromise the overall health of the lens. Such deficiencies weaken the lens’s ability to combat oxidative damage and contribute to the progression of cataracts.

• #36

  https://journals.lww.com/ijo/fulltext/2014/62020/etiopathogenesis_of_cataract__an_appraisal.2.aspx

  These cataracts occur due to endocrine disorders and biochemical abnormalities. Galactosemic and diabetic cataracts are common example of this kind of cataract. […] Many drugs can contribute to cataracts, including corticosteroids (such as prednisolone and cortisone). Steroid use is the fourth leading risk factor for secondary cataract and accounts for 4.7% of all cataract extractions. […] The radiation may be of any kind viz; ultra-violet rays, infrared, or electromagnetic waves. Ultra-violet-radiation has been linked with senile cataract in many studies. […] Present review summarizes the various etiopathogenesis of cataract. Senile cataract due to aging is more common than other types of cataract. Apart from aging, various risk factors of cataract like: Nutritional inadequacy, metabolic and inherited defects, ultraviolet radiation, and smoking have been implicated as significant risk factors in development of cataract.

• #37 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Drug-induced cataracts can result from prolonged use of certain medications. Corticosteroids, for example, can alter lens metabolism and protein structure, leading to posterior subcapsular cataracts. Other medications, such as miotics, chlorpromazine, and amiodarone, can cause lens opacities through mechanisms like oxidative stress and interference with lens cell function. Trauma to the eye, whether accidental or intentional, can also cause cataracts. Mechanical injury disrupts the lens capsule, allowing fluid entry and protein denaturation, resulting in cataract formation. […] Environmental and nutritional factors play significant roles in the development of pediatric cataracts. Prolonged exposure to ultraviolet radiation and other environmental stressors can heighten oxidative stress in the lens. This increased oxidative stress damages proteins and lipids within the lens, ultimately forming cataracts. Additionally, deficiencies in essential nutrients, particularly antioxidants like vitamins C and E, can compromise the overall health of the lens. Such deficiencies weaken the lens’s ability to combat oxidative damage and contribute to the progression of cataracts.

• #38

  https://journals.lww.com/ijo/fulltext/2014/62020/etiopathogenesis_of_cataract__an_appraisal.2.aspx

  These cataracts occur due to endocrine disorders and biochemical abnormalities. Galactosemic and diabetic cataracts are common example of this kind of cataract. […] Many drugs can contribute to cataracts, including corticosteroids (such as prednisolone and cortisone). Steroid use is the fourth leading risk factor for secondary cataract and accounts for 4.7% of all cataract extractions. […] The radiation may be of any kind viz; ultra-violet rays, infrared, or electromagnetic waves. Ultra-violet-radiation has been linked with senile cataract in many studies. […] Present review summarizes the various etiopathogenesis of cataract. Senile cataract due to aging is more common than other types of cataract. Apart from aging, various risk factors of cataract like: Nutritional inadequacy, metabolic and inherited defects, ultraviolet radiation, and smoking have been implicated as significant risk factors in development of cataract.

• #39 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Drug-induced cataracts can result from prolonged use of certain medications. Corticosteroids, for example, can alter lens metabolism and protein structure, leading to posterior subcapsular cataracts. Other medications, such as miotics, chlorpromazine, and amiodarone, can cause lens opacities through mechanisms like oxidative stress and interference with lens cell function. Trauma to the eye, whether accidental or intentional, can also cause cataracts. Mechanical injury disrupts the lens capsule, allowing fluid entry and protein denaturation, resulting in cataract formation. […] Environmental and nutritional factors play significant roles in the development of pediatric cataracts. Prolonged exposure to ultraviolet radiation and other environmental stressors can heighten oxidative stress in the lens. This increased oxidative stress damages proteins and lipids within the lens, ultimately forming cataracts. Additionally, deficiencies in essential nutrients, particularly antioxidants like vitamins C and E, can compromise the overall health of the lens. Such deficiencies weaken the lens’s ability to combat oxidative damage and contribute to the progression of cataracts.

• #40

  https://journals.lww.com/ijo/fulltext/2014/62020/etiopathogenesis_of_cataract__an_appraisal.2.aspx

  It is widely accepted that oxidative stress is a significant factor in the genesis of cataract, both in experimental animals and in cultured lens models. The oxidative processes rise with age in the human lens, and concentration of proteins found significantly higher in cataractous lenses. […] The composition and metabolism of membrane lipids may affect the formation of various types of cataracts. Lens membrane contains the highest cholesterol content of any known membrane. The development of cataract is associated with increased accumulation and re-distribution of cholesterol inside these cells. […] A cataract can form after blunt or penetrating injuries to the eye and entry of a difficult-to-remove foreign object, leads to physical damage and discontinuation of the eye lens capsule. […] This term refers to cataracts that are secondary to local eye as well as systematic inflammatory and degenerative diseases.

• #41 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  Drug-induced cataracts can result from prolonged use of certain medications. Corticosteroids, for example, can alter lens metabolism and protein structure, leading to posterior subcapsular cataracts. Other medications, such as miotics, chlorpromazine, and amiodarone, can cause lens opacities through mechanisms like oxidative stress and interference with lens cell function. Trauma to the eye, whether accidental or intentional, can also cause cataracts. Mechanical injury disrupts the lens capsule, allowing fluid entry and protein denaturation, resulting in cataract formation. […] Environmental and nutritional factors play significant roles in the development of pediatric cataracts. Prolonged exposure to ultraviolet radiation and other environmental stressors can heighten oxidative stress in the lens. This increased oxidative stress damages proteins and lipids within the lens, ultimately forming cataracts. Additionally, deficiencies in essential nutrients, particularly antioxidants like vitamins C and E, can compromise the overall health of the lens. Such deficiencies weaken the lens’s ability to combat oxidative damage and contribute to the progression of cataracts.

• #42 Congenital Cataract: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1210837-overview

  The lens forms during the invagination of surface ectoderm overlying the optic vesicle. The embryonic nucleus develops by the sixth week of gestation. Surrounding the embryonic nucleus is the fetal nucleus. At birth, the embryonic and fetal nuclei make up most of the lens. Postnatally, cortical lens fibers are laid down from the conversion of anterior lens epithelium into cortical lens fibers. […] Any insult (eg, metabolic, infectious, traumatic) to the nuclear or lenticular fibers may result in an opacity of the clear lenticular media. The location and pattern of this opacification may be used to determine the timing of the insult as well as the etiology. […] In 2019, Shiels and Hejtmancik wrote that a cataract typically „is caused by the presence of high-molecular-weight (HMW) protein aggregates or disruption of the lens microarchitecture. In general, genes involved in inherited cataracts reflect important processes and pathways in the lens including lens crystallins, connexins, growth factors, membrane proteins, intermediate filament proteins, and chaperones.”

• #43 Congenital Cataract: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1210837-overview

  The lens forms during the invagination of surface ectoderm overlying the optic vesicle. The embryonic nucleus develops by the sixth week of gestation. Surrounding the embryonic nucleus is the fetal nucleus. At birth, the embryonic and fetal nuclei make up most of the lens. Postnatally, cortical lens fibers are laid down from the conversion of anterior lens epithelium into cortical lens fibers. […] Any insult (eg, metabolic, infectious, traumatic) to the nuclear or lenticular fibers may result in an opacity of the clear lenticular media. The location and pattern of this opacification may be used to determine the timing of the insult as well as the etiology. […] In 2019, Shiels and Hejtmancik wrote that a cataract typically „is caused by the presence of high-molecular-weight (HMW) protein aggregates or disruption of the lens microarchitecture. In general, genes involved in inherited cataracts reflect important processes and pathways in the lens including lens crystallins, connexins, growth factors, membrane proteins, intermediate filament proteins, and chaperones.”

• #44 Congenital Cataract: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1210837-overview

  The lens forms during the invagination of surface ectoderm overlying the optic vesicle. The embryonic nucleus develops by the sixth week of gestation. Surrounding the embryonic nucleus is the fetal nucleus. At birth, the embryonic and fetal nuclei make up most of the lens. Postnatally, cortical lens fibers are laid down from the conversion of anterior lens epithelium into cortical lens fibers. […] Any insult (eg, metabolic, infectious, traumatic) to the nuclear or lenticular fibers may result in an opacity of the clear lenticular media. The location and pattern of this opacification may be used to determine the timing of the insult as well as the etiology. […] In 2019, Shiels and Hejtmancik wrote that a cataract typically „is caused by the presence of high-molecular-weight (HMW) protein aggregates or disruption of the lens microarchitecture. In general, genes involved in inherited cataracts reflect important processes and pathways in the lens including lens crystallins, connexins, growth factors, membrane proteins, intermediate filament proteins, and chaperones.”

• #45

• #46 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  If one of your child’s eyes is sending poorly focused, unclear images to their brain because they have a cataract in this eye, their brain will learn to ignore these images in favour of those provided by the other better seeing, or stronger eye. This prevents the visual pathway from developing properly in the eye which has the cataract. This is known as amblyopia or lazy eye. Amblyopia may result in permanently reduced vision as the visual pathway has not developed, particularly when the brain doesn’t get a chance to see clear images in the first few months of life. […] With unilateral congenital cataract, the brain tends to rely on the eye without a cataract and learns to switch off from the eye with the cataract and reduced vision. In these cases, it can be difficult to encourage the visual pathway to develop in the eye with the cataract.

• #47 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  If one of your child’s eyes is sending poorly focused, unclear images to their brain because they have a cataract in this eye, their brain will learn to ignore these images in favour of those provided by the other better seeing, or stronger eye. This prevents the visual pathway from developing properly in the eye which has the cataract. This is known as amblyopia or lazy eye. Amblyopia may result in permanently reduced vision as the visual pathway has not developed, particularly when the brain doesn’t get a chance to see clear images in the first few months of life. […] With unilateral congenital cataract, the brain tends to rely on the eye without a cataract and learns to switch off from the eye with the cataract and reduced vision. In these cases, it can be difficult to encourage the visual pathway to develop in the eye with the cataract.

• #48 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  If one of your child’s eyes is sending poorly focused, unclear images to their brain because they have a cataract in this eye, their brain will learn to ignore these images in favour of those provided by the other better seeing, or stronger eye. This prevents the visual pathway from developing properly in the eye which has the cataract. This is known as amblyopia or lazy eye. Amblyopia may result in permanently reduced vision as the visual pathway has not developed, particularly when the brain doesn’t get a chance to see clear images in the first few months of life. […] With unilateral congenital cataract, the brain tends to rely on the eye without a cataract and learns to switch off from the eye with the cataract and reduced vision. In these cases, it can be difficult to encourage the visual pathway to develop in the eye with the cataract.

• #49 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  Bilateral cataracts can cause amblyopia to develop in both eyes. If a child has bilateral cataracts so that both eyes are sending a cloudy image to the brain in the first months of life, then the brain will ignore the images from both eyes. The visual pathway may still develop, but it would be limited and therefore result in some vision being reduced permanently. […] A cataract located towards the centre of the lens is more likely to affect vision and visual pathway development, than one which is around the edge of the lens, though this will depend on its size and how dense, or cloudy, the cataract is. […] Congenital cataracts can continue to develop, although this normally takes months to years. The ophthalmologist would assess how much the cataract is affecting your child’s vision and then discuss treatment with you if they feel it is needed.

• #50 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  Bilateral cataracts can cause amblyopia to develop in both eyes. If a child has bilateral cataracts so that both eyes are sending a cloudy image to the brain in the first months of life, then the brain will ignore the images from both eyes. The visual pathway may still develop, but it would be limited and therefore result in some vision being reduced permanently. […] A cataract located towards the centre of the lens is more likely to affect vision and visual pathway development, than one which is around the edge of the lens, though this will depend on its size and how dense, or cloudy, the cataract is. […] Congenital cataracts can continue to develop, although this normally takes months to years. The ophthalmologist would assess how much the cataract is affecting your child’s vision and then discuss treatment with you if they feel it is needed.

• #51 Lecture: Pathogenesis and Management of Pediatric Cataracts | Cybersight

  https://cybersight.org/library/pathogenesis-and-management-of-pediatric-cataracts/

  So the pathogenesis, as we come to pediatric cataracts pediatric cataracts are basically classified based on their morphological appearance and etiological presentation. So in morphology, the cataract arises due to arrest in the growth or some disturbance during the development of the lens. So depending on which position or which position of the lens opacifies, the cataracts can classified accordingly. […] The etiological classification, when it comes to that we divide them into bilateral presentation and unilateral cataracts. So bilateral, the commonest etiology is no cause. Idiopathic. Which is up to 50% of the cataracts have no cause. The second commonest is congenital or developmental. Again, here, cause is idiopathic. Hereditary or genetic can be a second reason. And associated with inborn errors of metabolism and TORCH, infection, perinatally, can be a cause of congenital bilateral developmental cataracts.

• #52 Cataract

  https://aapos.org/glossary/cataract

  Nuclear Cataract: Cloudiness in the center of the lens. […] Posterior subcapsular cataract: A thin layer of cloudiness in the back part of the lens, close to the capsule. […] Anterior polar cataract: A small spot of cloudiness at the front of the lens capsule. […] Posterior polar cataract: Cloudiness in the center part of the back of the lens near the capsule. […] Persistent fetal vasculature: During eye growth in pregnancy there is a blood vessel from the back of the eye to the lens that helps the lens grow. […] Sometimes that blood vessel doesn’t go away and causes a cataract on the back of the lens as well as other eye problems, including problems in the retina. […] These cataracts are harder to treat than others, especially if it involves the retina or other parts of the eye.

• #53 Symptoms, causes and treatment for congenital cataracts

  https://neoretina.com/blog/congenital-cataracts-early-diagnosis-is-the-key/

  Children could be having cataracts right from birth. We refer to them as congenital cataracts. […] A newborn is at risk for several reasons. […] The lenses of the eyes are partly solid (protein fibres) and partly liquid (water). When protein fibres clump together, resembling a milky-white, opaque mass, they result in congenital cataracts. […] The commonest type is nuclear congenital cataract, which affects the central region of the lens. The posterior polar type affects the region at the back of the lens. The anterior polar type affects the front portion of the lens. They are small and inherited. […] Bluish dots are again a sign of inherited tendencies. They are small, cerulean congenital cataracts.

• #54 Cataract

  https://aapos.org/glossary/cataract

  Babies can get cataracts if their lens did not grow correctly before they were born (during pregnancy). Cataracts in children can also happen due to genetics (can run in families), problems with the growth of the eyes different parts, and infections. […] Most cataracts in children are found on their own and are not a part of other health problems in the body. […] When cataracts come with other medical problems, it is often because there is a genetic or metabolism problem. […] These cataracts may show up at birth or later in life as the child grows up. […] The lens is made up of three main parts: a center part (nucleus), an outer part (cortex), and a bag (capsule) surrounding the cortex. Any of these parts can become cloudy and make a cataract. […] The different types of cloudiness have different names, including: Lamellar cataract: Cloudiness between the center and outer parts of the lens.

• #55

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  For some cataract-associated genes, the resulting phenotype can vary widely depending on the localisation of the respective nucleotide change. […] The main lens proteins associated with congenital cataract include crystallins, membrane proteins, cytoskeletal structural proteins and transcription factors. […] Some of these genes are also involved in the development of other ocular structures; hence in approximately 15% of cases mutations can lead to associated eye abnormalities. […] Approximately 50% of non-syndromic hereditary cataract are due to mutations in genes coding for crystallin proteins with over 100 mutations, mostly missense, encoding 12 different human , and -crystallin genes. […] Genetic mutations associated with cataract and other ocular malformations. […] Mutations in genes encoding major intrinsic proteins account for 5% of all inherited cataract.

• #56 Cataract

  https://aapos.org/glossary/cataract

  Nuclear Cataract: Cloudiness in the center of the lens. […] Posterior subcapsular cataract: A thin layer of cloudiness in the back part of the lens, close to the capsule. […] Anterior polar cataract: A small spot of cloudiness at the front of the lens capsule. […] Posterior polar cataract: Cloudiness in the center part of the back of the lens near the capsule. […] Persistent fetal vasculature: During eye growth in pregnancy there is a blood vessel from the back of the eye to the lens that helps the lens grow. […] Sometimes that blood vessel doesn’t go away and causes a cataract on the back of the lens as well as other eye problems, including problems in the retina. […] These cataracts are harder to treat than others, especially if it involves the retina or other parts of the eye.

• #57 Cataract

  https://aapos.org/glossary/cataract

  Nuclear Cataract: Cloudiness in the center of the lens. […] Posterior subcapsular cataract: A thin layer of cloudiness in the back part of the lens, close to the capsule. […] Anterior polar cataract: A small spot of cloudiness at the front of the lens capsule. […] Posterior polar cataract: Cloudiness in the center part of the back of the lens near the capsule. […] Persistent fetal vasculature: During eye growth in pregnancy there is a blood vessel from the back of the eye to the lens that helps the lens grow. […] Sometimes that blood vessel doesn’t go away and causes a cataract on the back of the lens as well as other eye problems, including problems in the retina. […] These cataracts are harder to treat than others, especially if it involves the retina or other parts of the eye.

• #58 Cataract

  https://aapos.org/glossary/cataract

  Nuclear Cataract: Cloudiness in the center of the lens. […] Posterior subcapsular cataract: A thin layer of cloudiness in the back part of the lens, close to the capsule. […] Anterior polar cataract: A small spot of cloudiness at the front of the lens capsule. […] Posterior polar cataract: Cloudiness in the center part of the back of the lens near the capsule. […] Persistent fetal vasculature: During eye growth in pregnancy there is a blood vessel from the back of the eye to the lens that helps the lens grow. […] Sometimes that blood vessel doesn’t go away and causes a cataract on the back of the lens as well as other eye problems, including problems in the retina. […] These cataracts are harder to treat than others, especially if it involves the retina or other parts of the eye.

• #59 Symptoms, causes and treatment for congenital cataracts

  https://neoretina.com/blog/congenital-cataracts-early-diagnosis-is-the-key/

  Children could be having cataracts right from birth. We refer to them as congenital cataracts. […] A newborn is at risk for several reasons. […] The lenses of the eyes are partly solid (protein fibres) and partly liquid (water). When protein fibres clump together, resembling a milky-white, opaque mass, they result in congenital cataracts. […] The commonest type is nuclear congenital cataract, which affects the central region of the lens. The posterior polar type affects the region at the back of the lens. The anterior polar type affects the front portion of the lens. They are small and inherited. […] Bluish dots are again a sign of inherited tendencies. They are small, cerulean congenital cataracts.

• #60 Cataract

  https://aapos.org/glossary/cataract

  Nuclear Cataract: Cloudiness in the center of the lens. […] Posterior subcapsular cataract: A thin layer of cloudiness in the back part of the lens, close to the capsule. […] Anterior polar cataract: A small spot of cloudiness at the front of the lens capsule. […] Posterior polar cataract: Cloudiness in the center part of the back of the lens near the capsule. […] Persistent fetal vasculature: During eye growth in pregnancy there is a blood vessel from the back of the eye to the lens that helps the lens grow. […] Sometimes that blood vessel doesn’t go away and causes a cataract on the back of the lens as well as other eye problems, including problems in the retina. […] These cataracts are harder to treat than others, especially if it involves the retina or other parts of the eye.

• #61 Cataract

  https://aapos.org/glossary/cataract

  Traumatic cataract: This happens when the lens is damaged from an eye injury. […] If your child has a cataract that is making it hard for them to see, it is important to remove it as soon as it is safe. […] It is especially important to act quickly when a cataract is present at birth. […] Waiting too long to treat a cataract, can make it hard for the vision part of the brain to develop. […] A cataract is removed with eye surgery. […] A small cut is made into the eye and the front part of the bag (capsule) of the cloudy lens. […] The soft cloudy lens (cataract) inside the lens capsule is removed with a special suction tool. […] A child can develop amblyopia from the cataract even after early surgery. […] An intraocular lens (IOL) implant is a man-made lens that is put into the eye to take over the focusing job of the natural lens that is removed during cataract surgery.

• #62

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  Worldwide 20,00040,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. […] In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. […] Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. […] Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. […] Cataract develops due to disruption of the normal lens protein structure or function, resulting in opacity. […] This may occur as a result of stressors applied to lens proteins including those acquired in utero or during childhood.

• #63

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  Aquaporin-0 is the most expressed membrane protein in the human lens and variants are inherited in an autosomal dominant pattern producing a variety of cataract phenotypes. […] Heat shock transcription factor 4 (HSF4) protects lens proteins from cell stressors and has a regulatory role in the differentiation of lens fibre cells. […] Mutations in HSF4 most often produce lamellar cataract, which can be present at birth or develop in early childhood, and can be inherited in a dominant or recessive mode. […] Syndromic congenital cataract manifests as a result of various types of mutations, including chromosomal abnormalities, loss-of-heterozygosity, mitochondrial disorders, triplet repeat disorders and more complex genetic disorders such as diabetes. […] Cataracts show phenotypic variability and are associated with a myriad of systemic dysmorphic features. […] Metabolic disorders are an important differential in the cause of congenital cataract, and these are often inherited in an autosomal recessive pattern. […] Several rare autosomal recessive conditions are associated with the development of cataract.

• #64 Cataract – Wikipedia

  https://en.wikipedia.org/wiki/Cataract

  The genetic component is strong in the development of cataracts,[28] most commonly through mechanisms that protect and maintain the lens. The presence of cataracts in childhood or early life can occasionally be due to a particular syndrome. Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chat syndrome, Down syndrome, Patau’s syndrome, trisomy 18 (Edward’s syndrome), and Turner’s syndrome, and in the case of neurofibromatosis type 2, juvenile cataract on one or both sides may be noted. Examples of single-gene disorder include Alport’s syndrome, Conradi’s syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome.[29]

• #65 Congenital cataracts – a literature review

  https://www.termedia.pl/Congenital-cataracts-a-literature-review,127,51990,1,1.html

  Mutations in genes encoding cytoskeletal structural proteins: Beaded filament structural proteins (BFSP) belong to intermediate filament proteins and together with crystallins form part of the highly organized cytoskeleton and play a role in lens development. They are made up of BFSP1 (filensin) and BFSP2 (phakinin). These proteins are encoded by their corresponding genes BFSP1 and BFSP2. Mutations in both genes, BFSP1 and BFSP2, can cause variety of types of congenital and pediatric cataracts with both AD and AR inheritance pattern. […] Other possible examples of mutations in genes: ITX3 (paired-like homeodomain 3), PAX6 (paired box 6), and HSF-4 (heat shock protein factor-4). A complete list of possible mutations is provided in Cat-Map, which is an online chromosome map and reference database for inherited and age-related forms of cataract. The most common causative groups are mutations in genes encoding crystallins (33%), developmental and transcription factors (26%), connexins (18%), membrane proteins and transporters (11%), intermediate filament proteins (4%) and others. In addition, the metabolic basis can be distinguished, including disorders such as hyperglycinuria, diabetes, and galactosemia. Some of the non-genetic causes of congenital cataract are: intrauterine infections with herpes simplex virus (HSV), rubella virus, Toxoplasma gondii, and others, physical trauma, radiation and drug exposure (e.g. steroids) during pregnancy. Congenital cataracts may also be a part of a multisystem disorder. Common syndromes associated with congenital cataracts are Alport syndrome, Hallermann-Streiff-Francois syndrome, Lowe syndrome, Smith-Lemli-Opitz syndrome and others. All of the above are the primary known causes of congenital cataracts; however, many cases, especially unilateral congenital cataracts, remain idiopathic.

• #66

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  Worldwide 20,00040,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. […] In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. […] Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. […] Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. […] Cataract develops due to disruption of the normal lens protein structure or function, resulting in opacity. […] This may occur as a result of stressors applied to lens proteins including those acquired in utero or during childhood.

• #67 Congenital cataract: for patients – Gene Vision

  https://gene.vision/knowledge-base/congenital-cataract-for-patients/

  The following complications may occur after surgery: Visual axis opacification […] Children affected by syndromic cataracts tend to be complex and hence a multidisciplinary approach involving various specialists are recommended. […] Most of the current clinical trials are focussed on exploring different surgical techniques and intraocular lenses to help patients achieve the best possible visual outcomes whilst minimising development of complications after surgery.

• #68 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  The mechanisms underlying lens opacification are multifaceted and encompass various biological processes. Protein aggregation, resulting from mutations or metabolic imbalances, causes crystallin proteins to unfold and aggregate, leading to light scattering and lens opacity. Osmotic imbalances, seen in conditions like diabetes and galactosemia, prompt the accumulation of osmotic agents within the lens, triggering cell swelling, membrane rupture, and protein leakage. Calcium homeostasis disruptions further contribute to lens opacity by affecting cell signaling and protein stability. […] Inflammatory responses elicited by infections or trauma can damage lens cells and proteins, further exacerbating cataract formation. Given the complexity of pediatric cataracts’ pathophysiology, which involves genetic mutations, metabolic disturbances, infections, drug effects, trauma, and environmental influences, comprehending these mechanisms is essential for devising effective preventive and therapeutic interventions to preserve vision in affected children.

• #69

  https://www.nhs.uk/conditions/childhood-cataracts/

  Cataracts occur when changes in the lens of the eye cause it to become less transparent (clear). This results in cloudy or misty vision. […] Cataracts in babies and children are rare. In the UK, around 3 to 4 in every 10,000 babies are born with cataracts. […] There are a number of reasons why a child may be born with cataracts or develop them while they’re still young. But in many cases it is not possible to determine the exact cause. Possible causes include: a genetic fault inherited from the child’s parents that caused the lens to develop abnormally, certain genetic conditions, including Down’s syndrome, certain infections picked up by the mother during pregnancy, including rubella and chickenpox, an injury to the eye after birth. […] Cataracts that affect vision that are not quickly treated can sometimes cause irreversible damage to eyesight, including a permanently lazy eye and even blindness in severe cases. […] It’s not usually possible to prevent cataracts, particularly those that are inherited (run in the family).

• #70 Cataract

  https://aapos.org/glossary/cataract

  Traumatic cataract: This happens when the lens is damaged from an eye injury. […] If your child has a cataract that is making it hard for them to see, it is important to remove it as soon as it is safe. […] It is especially important to act quickly when a cataract is present at birth. […] Waiting too long to treat a cataract, can make it hard for the vision part of the brain to develop. […] A cataract is removed with eye surgery. […] A small cut is made into the eye and the front part of the bag (capsule) of the cloudy lens. […] The soft cloudy lens (cataract) inside the lens capsule is removed with a special suction tool. […] A child can develop amblyopia from the cataract even after early surgery. […] An intraocular lens (IOL) implant is a man-made lens that is put into the eye to take over the focusing job of the natural lens that is removed during cataract surgery.

• #71 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  If your baby’s cataract or cataracts are likely to have a significant effect on their vision, surgery is considered early on and under the age of three months as visual development in the first few months of life is vital. […] Dense cataracts that are likely to interfere with your baby’s vision are usually removed very early, during the first few months of life. […] If your child has unilateral cataract, or bilateral cataracts with a cloudier lens on one side, your child’s ophthalmologist will also consider patching your child’s stronger eye to help their brain switch onto the weaker eye. This is just as important as the cataract surgery itself. […] After surgery some children may develop an eye complication such as glaucoma. […] Visual axis opacity (VAO) is a very common complication that can occur following cataract surgery. […] Amblyopia (lazy eye) can develop when the brain switches off from the eye with worse vision and just switches on to the eye with the better vision.

• #72 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  If your baby’s cataract or cataracts are likely to have a significant effect on their vision, surgery is considered early on and under the age of three months as visual development in the first few months of life is vital. […] Dense cataracts that are likely to interfere with your baby’s vision are usually removed very early, during the first few months of life. […] If your child has unilateral cataract, or bilateral cataracts with a cloudier lens on one side, your child’s ophthalmologist will also consider patching your child’s stronger eye to help their brain switch onto the weaker eye. This is just as important as the cataract surgery itself. […] After surgery some children may develop an eye complication such as glaucoma. […] Visual axis opacity (VAO) is a very common complication that can occur following cataract surgery. […] Amblyopia (lazy eye) can develop when the brain switches off from the eye with worse vision and just switches on to the eye with the better vision.

• #73 Congenital cataract: for patients – Gene Vision

  https://gene.vision/knowledge-base/congenital-cataract-for-patients/

  There are also non-genetic causes which can lead to either unilateral or bilateral cataracts in children: Maternal infections during pregnancy […] Congenital cataract is usually an isolated eye condition but in a minority of children, it may be part of a wider systemic condition which require input from paediatricians and other relevant specialists as well. […] The genetic changes causing congenital cataracts is usually inherited in an autosomal dominant manner (44% of cases). […] Less commonly, genetic changes causing congenital cataract can also be inherited in the following patterns: Autosomal recessive […] Cataract surgery is recommended if vision is significantly affected. […] Once the natural lens (which is affected by cataract) has been removed, the eye loses its focussing power.

• #74 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology

  https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377

  Congenital cataract can also occur due to physical and environmental factors such as infections and teratogens. […] Molecular diagnosis will provide a better understanding of the pathogenesis of the disease and enable more detailed and individualized genetic counseling, including prenatal diagnosis. […] Next-generation sequencing technologies are a useful and reliable method for detecting and evaluating the underlying molecular etiology of this heterogeneous genetic disease, and seem likely to continue to provide more data in the future.

• #75 Focus on molecular mechanisms underlying cataract development

  https://www.ophthalmologytimes.com/view/focus-on-molecular-mechanisms-underlying-cataract-development

  Identifying the genetic variants causing congenital cataracts has not only improved our understanding of the pathogenesis of infantile cataracts, the most frequent treatable cause of childhood blindness, but also their more common counterpart, adult-onset cataracts. […] Childhood cataracts may occur in isolation associated with other ocular abnormalities, such as anterior segment mesenchymal dysgenesis due to variants in transcription or development factors, or be a part of multisystem genetic disorders. Nearly half of congenital cataracts are characterized as inherited and they are a clinical feature of almost 200 syndromic genetic diseases. […] To date, 356 genes have been found to be associated with syndromic and nonsyndromic cataracts and nearly 50 disease-causing genes have been identified as being associated with isolated cataracts. […] The identification of genetic variants causing congenital cataracts and the elucidation of their impact on the lens is of vital importance to develop new therapies for cataracts.

• #76

  https://journals.lww.com/md-journal/fulltext/2018/10190/bilateral_cataracts_as_the_first_manifestation_of.67.aspx

  Glycosylation due to high carbohydrate and oxidative stress may contribute to the opacification of the lens. […] Aldose reductase inhibitors have been reported to induce a protective effect on cataract formation. […] In addition, increased levels of aldose reductase in female adolescents may result in the prevalence of diabetic cataracts in female patients. […] The presented case encourages proper patient monitoring after surgery to identify retinal lesions in a prompt manner. Appropriate therapeutic interventions should be actively performed to prevent further deterioration of vision if retinal lesions occur.

• #77 The paediatric cataract: an overview of the embryology and pathophysiology | Eye News

  https://www.eyenews.uk.com/education/trainees/post/the-paediatric-cataract-an-overview-of-the-embryology-and-pathophysiology

  Cataracts arise from opacification of the natural transparent lens, which can cause partial or total blindness. […] The pathogenesis of cataract formation in childhood is not completely understood. However, there are a range of causes thought to be associated with congenital and developmental cataracts. […] The pathogenesis is not fully understood, but genetic mutation, metabolic disease and oxidative damage are thought to be some causes of cataract formation in childhood.

• #78 Epidemiology, Pathophysiology, Causes, Morphology, and Visual Effects of Cataract | Ento Key

  https://entokey.com/epidemiology-pathophysiology-causes-morphology-and-visual-effects-of-cataract/

  Factors in cataract pathogenesis include lens protein oxidation, mitochondrial function, failure of protective mechanisms, protein modification, and abnormalities of calcium metabolism, cellular proliferation, and differentiation. […] The transparency of the lens is dependent on the regular organization of the lens cells and intracellular lens proteins. The precise mechanisms by which lens proteins both prevent aggregation and maintain lens transparency are largely unknown. Genetic, metabolic, nutritional, and environmental insults and ocular and systemic diseases disrupt cellular organization and intracellular homeostasis, eventually causing light scattering and absorption, which compromise vision. […] Oxidation is a key feature in the pathogenesis of most cataracts. Low oxygen levels (O 2 ) are important for maintaining a clear lens. Free radicals and other oxidants, including reactive oxygen species (ROS) and reactive nitrogen species (RNS), are derived from both endogenous sources (mitochondria, peroxisomes, endoplasmic reticulum, phagocytic cells, etc.) and exogenous sources (pollution, alcohol, tobacco smoke, heavy metals, transition metals, industrial solvents, pesticides, and certain drugs like halothane, paracetamol, and radiation). Free radicals can adversely affect nucleic acids, lipids, and proteins, altering the normal redox status and leading to increased oxidative stress and cataracts.

• #79 Pediatric Cataract – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK572080/

  The mechanisms underlying lens opacification are multifaceted and encompass various biological processes. Protein aggregation, resulting from mutations or metabolic imbalances, causes crystallin proteins to unfold and aggregate, leading to light scattering and lens opacity. Osmotic imbalances, seen in conditions like diabetes and galactosemia, prompt the accumulation of osmotic agents within the lens, triggering cell swelling, membrane rupture, and protein leakage. Calcium homeostasis disruptions further contribute to lens opacity by affecting cell signaling and protein stability. […] Inflammatory responses elicited by infections or trauma can damage lens cells and proteins, further exacerbating cataract formation. Given the complexity of pediatric cataracts’ pathophysiology, which involves genetic mutations, metabolic disturbances, infections, drug effects, trauma, and environmental influences, comprehending these mechanisms is essential for devising effective preventive and therapeutic interventions to preserve vision in affected children.

• #80 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology

  https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377

  Congenital cataract can also occur due to physical and environmental factors such as infections and teratogens. […] Molecular diagnosis will provide a better understanding of the pathogenesis of the disease and enable more detailed and individualized genetic counseling, including prenatal diagnosis. […] Next-generation sequencing technologies are a useful and reliable method for detecting and evaluating the underlying molecular etiology of this heterogeneous genetic disease, and seem likely to continue to provide more data in the future.

• #81

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/

  Worldwide 20,00040,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. […] In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. […] Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. […] Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. […] Cataract develops due to disruption of the normal lens protein structure or function, resulting in opacity. […] This may occur as a result of stressors applied to lens proteins including those acquired in utero or during childhood.

• #82 Congenital cataracts – resources and information | RNIB | RNIB

  https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/

  If your baby’s cataract or cataracts are likely to have a significant effect on their vision, surgery is considered early on and under the age of three months as visual development in the first few months of life is vital. […] Dense cataracts that are likely to interfere with your baby’s vision are usually removed very early, during the first few months of life. […] If your child has unilateral cataract, or bilateral cataracts with a cloudier lens on one side, your child’s ophthalmologist will also consider patching your child’s stronger eye to help their brain switch onto the weaker eye. This is just as important as the cataract surgery itself. […] After surgery some children may develop an eye complication such as glaucoma. […] Visual axis opacity (VAO) is a very common complication that can occur following cataract surgery. […] Amblyopia (lazy eye) can develop when the brain switches off from the eye with worse vision and just switches on to the eye with the better vision.

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