Materiały źródłowe

• #1

  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. […] Routine genetic testing is essential for the complete clinical management of patients, with next-generation sequencing of 115 genes shown to expedite molecular diagnosis, streamline care pathways and inform genetic counselling and reproductive options for the future. […] Genetic testing is a key investigation for congenital cataracts, and recent studies have shown molecular diagnostic rates between 50% and 90% for bilateral cases. […] Current practice involves using a targeted gene panel of cataract-related genes using next-generation sequencing technology, which has 90% coverage. […] Genetic testing has been found to expedite diagnosis and provide a personalised clinical management plan, streamlining care pathways for patients, supporting informed genetic counselling and making informed decisions with regards to family planning.

• #2

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

  Cataracts in babies and children are rare. In the UK, around 3 to 4 in every 10,000 babies are born with cataracts. […] If a congenital cataract is suspected at the newborn examination, a specialist eye doctor will see your baby within 2 weeks of the examination. […] It’s particularly important to spot cataracts in children quickly because early treatment can reduce the risk of long-term vision problems. […] Read more about the symptoms of childhood cataracts and diagnosing childhood cataracts. […] But if cataracts are affecting your child’s vision, they can slow down or stop their normal sight development. […] In these cases, surgery to remove the affected lens (or lenses) will usually be recommended as soon as possible. […] Read more about treating childhood cataracts. […] 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. […] Read more about the complications of childhood cataracts. […] It’s not usually possible to prevent cataracts, particularly those that are inherited (run in the family). […] Read more about infections in pregnancy and genetic and genomic testing.

• #3

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

  It’s important childhood cataracts are diagnosed as early as possible. Early treatment can significantly reduce the risk of long-term vision problems. […] Childhood cataracts are among the conditions screened for during the newborn physical examination. […] If no red reflex, or a weak one, is seen, it may mean there’s cloudiness in the lens. […] If it’s thought your baby or child may have cataracts, they’ll usually be referred to hospital to see an ophthalmologist as soon as possible. […] They’ll diagnose cataracts if they can see them in the lens.

• #4 Congenital Cataracts: Types, Symptoms & Treatment | MyVision.org

  https://myvision.org/cataracts/congenital-cataracts/

  Most hospitals perform eye exams to screen for this condition. For instance, a babys eyes are examined within the first 72 hours after birth. Routine exams are also performed when the child is 6 to 8 weeks old. […] A comprehensive eye exam is the best way to diagnose a congenital cataract. If a congenital cataract is suspected on a screening, the infant will need to be examined by an ophthalmologist for an official diagnosis. […] In addition, a pediatrician specializing in genetic disorders may examine the infant. Further tests such as x-rays or blood panels can help to provide a precise diagnosis.

• #5 Childhood Cataracts: Symptoms, Diagnosis, and Treatment

  https://www.healthline.com/health/childhood-cataracts

  Childhood cataracts are also sometimes known as congenital cataracts if theyre diagnosed at birth. Other names for them include developmental, infantile, or juvenile cataracts. They can be present in one or both eyes. […] Your childs doctor will look for evidence of cataracts during their newborn exam or a routine physical. […] Theyll test for a red reflex to determine eye health and look for cataracts. Shining a bright light into the pupil, theyll look to see whether the retina reflects back a red glow and measure the glows brightness, color, and symmetry. If they see no red reflex or a weak red reflex, this may mean that the lens is not fully transparent, possibly indicating cataracts. […] When signs of cataracts are present, your doctor will typically refer you to an ophthalmologist, where dilation and further eye testing will occur.

• #6 Diagnosis of childhood cataract – CATARACT KIDS AUSTRALIA

  https://www.cataractkids.org.au/diagnosis.html

  Signs of possible cataract or other eye problems in babies and children include: A white spot on child’s pupil, seen either directly by looking, or in a photograph (this is also called a 'lack of red reflex’) […] Any of these problems should be investigated by a health professional without delay. […] Babies and children should be seen by a GP or local optometrist for a prompt assessment and referral to an ophthalmologist. […] Cataract Kids Australia is working for improvements to the screening and diagnosis of vision problems in Australian babies and children. We hear too many stories of late diagnosis of cataract in babies, which can cause lasting vision impairment.

• #7 Diagnosis of cataract in childhood – Athens Eye Hospital

  https://www.athenseyehospital.gr/en/a-childs-eyes/cataract/diagnosis-of-cataract-in-childhood-p248.html

  The cataract is usually recognized as a whitish blur in the center of the pupil of one or both of the childs eyes. […] Generally it is easy for the parents to see it when they look at the childs eyes or look at photographs, wherein the one or the two pupils do not seem to have the expected clarity with its characteristic rosy complexion. […] The most common reason leading to the discovery of a childhood cataract is the appearance of strabismus in the eye. If the eye does not see well because of the blurring, it usually does not retain alignment with the healthy eye and squints inwardly, outwardly and sometimes upwards. This deviation is often the reason that parents resort to an ophthalmologist, where finally cataract is diagnosed. […] In older children, the diagnosis of cataract comes from testing the visual acuity when in kindergarten or elementary school, where the eye with cataract shows a significant reduction of vision.

• #8 Delayed diagnosis of congenital cataract in preterm infants: Findings from the IoLunder2 cohort study | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0287658

  Early detection is critical to achieving optimal outcomes in children with congenital cataract. […] We hypothesized that detection of congenital cataract in preterm infants would be delayed compared with term/post-term peers due to delayed delivery of whole population child health interventions. […] Late detection was independently associated with premature birth, specifically moderate/late preterm birth (adjusted odds ratio 3.0, 95%CI 1.1 to 8.5). […] Our findings suggest that, despite enhanced eye surveillance being recommended for those born moderate/late preterm (32+ weeks gestational age, ie not eligible for retinopathy of prematurity screening), congenital cataract is not being effectively detected through the routine screening programme for this vulnerable group. […] It is necessary to improve the effectiveness of the screening programme, and care must be taken to ensure that competing health care needs of preterm children do not prevent universal child health interventions.

• #9 Cataracts in Children, Congenital and Acquired – EyeWiki

  https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired

  Management of a cataract in a child is different from adults because of the anatomically younger ocular tissues, continuous ocular growth and other associated structural anomalies. […] The most critical part of the workup is a thorough ophthalmologic exam including slit lamp examination of both eyes, checking intraocular pressure, and an ultrasound of the posterior pole if not visible. […] Age appropriate visual acuity testing to assess visual function helps establish the significance of the lens opacification on visual development and amblyopia. […] Strabismus and nystagmus are noted in wide of congenital cataracts and gives a clue about amblyopia. […] The choice of anaesthesia depends upon age and systemic condition of patient. Risk and benefits of general anaesthesia has to be considered.

• #10 Childhood Cataracts: Definition, Causes, Symptoms, Diagnosis, and Treatment

  https://www.oscarwylee.com.au/glasses/eye/childhood-cataracts?srsltid=AfmBOop2Lm0j_k0shVC_7xqkLXGx1odDScUB32hksdHC5dXm_6Aw3ALf

  Childhood cataracts can be diagnosed in the same way other eye conditions are diagnosed, through an eye test by an eye care professional. […] Childhood cataracts may also be diagnosed during the newborn exam which occurs after a child is born. The tests or eye exams performed to diagnose childhood cataracts may include a visual acuity test, slit lamp exam, intraocular pressure test and fundoscopic exam. […] An optometrist or ophthalmologist can both diagnose childhood cataracts through specific tests such as a visual acuity test and slit lamp exam. […] Early childhood cataracts cannot be reversed but they can be treated with surgery. […] Childhood cataracts are treated in a similar way to adult cataracts, which includes corrective devices such as glasses and contact lenses, and surgery.

• #11 Cataracts – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cataracts/diagnosis-treatment/drc-20353795

  To determine whether you have a cataract, your eye doctor will review your medical history and symptoms. They also will perform an eye exam. Your doctor may do several tests, including: […] A retinal exam looks at the back of your eyes, called the retina. To prepare for a retinal exam, your eye doctor puts drops in your eyes to open your pupils wide, called dilation. This makes it easier to see the retina. Using a slit lamp or a special device called an ophthalmoscope, your eye doctor can examine your lens for signs of a cataract. […] Yes, babies and kids get cataracts, too whether from complex genetic disease, a firecracker injury in an older child, or a birth defect in a newborn. Cataracts may severely cloud the vision of children. And since vision development in the brain takes years to refine, having a cataract even for a short time will have a lifelong implication.

• #12 Cataracts in Children – Stanford Medicine Children’s Health

  https://deprod.stanfordchildrens.org/en/topic/default?id=cataracts-in-children-90-P02105

  Cataracts in children can cause blindness if they aren’t treated. […] Your child’s healthcare provider will ask you about your child’s health history. Then he or she will give your child an eye exam. Your child may need to have the following tests: […] This is the eye chart test. It checks your child’s ability to see from different distances. […] Your child will get eye drops. These make the pupils wider (dilated). This allows the healthcare provider to get a close-up view of the eye’s lens, retina, and optic nerve. The healthcare provider will look for signs of damage or other eye problems. […] Many children with cataracts need surgery to remove them.

• #13 Congenital cataract: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001615.htm

  A congenital cataract is a clouding of the lens of the eye that is present at birth. […] To diagnose congenital cataract, the infant should have a complete eye exam by an ophthalmologist. The infant may also need to be examined by a pediatrician who is experienced in treating inherited disorders. Blood tests or x-rays may also be needed. […] Removing a congenital cataract is usually a safe, effective procedure. The child will need follow-up for vision rehabilitation.

• #14 Pediatric Cataract – StatPearls – NCBI Bookshelf

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

  Pediatric cataracts exhibit a wide range of etiologies and manifestations. A thorough evaluation is thus necessary to identify underlying causes, which can significantly impact management and treatment strategies. Recognizing whether the cataracts are unilateral or bilateral and understanding the potential systemic associations are crucial for providing comprehensive care and improving outcomes for affected children.

• #15 Cataracts in Children, Congenital and Acquired – EyeWiki

  https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired

  A cataract is any light scattering opacity of the lens. […] The first step in the workup of bilateral cataracts should be a family history including examination of family members. […] For bilateral cataracts without a family history, the recommended workup includes a urine test for reducing sugars, TORCH (toxoplasmosis, rubella, cytomegalovirus, varicella) screening, a Venereal Disease Research Laboratory (VDRL) test for syphilis, and a blood test for calcium, phosphorus, glucose, and galactokinase levels. […] A unilateral cataract does not typically require extensive diagnostic evaluation, as most of them are isolated, non hereditary with no systemic and genetic abnormality. […] The differential diagnosis for leukocoria or white pupil includes retinoblastoma, PFV, retinopathy of prematurity, chorioretinal colobomas, toxocariasis, Coats disease, vitreous hemorrhage and other retinal tumors. These can be distinguished by a complete exam of the anterior and posterior segment, often including ultrasound.

• #16 Congenital Cataract Differential Diagnoses

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

  The differential diagnosis for leukocoria, or a white reflex, is broad. Once the comprehensive eye exam is performed by an ophthalmologist, the visualization of a congenital cataract confirms the diagnosis. Further workup for the etiology of the congenital cataract may be pursued for bilateral cases.

• #17 Pediatric Care for Congenital Cataracts: Early Diagnosis

  https://www.spanisheyeclinic.com/pediatric-ophthalmology-dealing-with-congenital-cataracts/

  Cataracts are more frequently heard as a condition that occurs in adults with aging. However certain cataracts can be seen in infants at birth. Early diagnosis of these is crucial to prevent vision reduction or blindness. […] It is important to diagnose this as it can lead to permanent visual loss of the child. […] Hence it is important to get diagnosed with these types and get treated as it can affect the entire life of your child. […] If your child was born with cataracts go to your eye clinic and contact the eye specialist for further diagnosis. While all newborns should have screening eye examinations several tests can be done to diagnose the condition. […] This test is conducted to identify vision impairments of infants and children. […] A retinoscope is used to shine light into the eye and observe the reflection of the retina. […] A basic laboratory evaluation can be done for bilateral cataracts with an undefined cause. This can be done through urine tests for reducing substances and infectious diseases.

• #18

  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. […] Routine genetic testing is essential for the complete clinical management of patients, with next-generation sequencing of 115 genes shown to expedite molecular diagnosis, streamline care pathways and inform genetic counselling and reproductive options for the future. […] Genetic testing is a key investigation for congenital cataracts, and recent studies have shown molecular diagnostic rates between 50% and 90% for bilateral cases. […] Current practice involves using a targeted gene panel of cataract-related genes using next-generation sequencing technology, which has 90% coverage. […] Genetic testing has been found to expedite diagnosis and provide a personalised clinical management plan, streamlining care pathways for patients, supporting informed genetic counselling and making informed decisions with regards to family planning.

• #19

  https://link.springer.com/article/10.1007/s12687-024-00708-9

  Considering only genetic testing with WES, the cost was 527.85 USD (R$ 2.728,24) per patient. […] The identification of the causative variant and its pattern of inheritance are fundamental to improving genetic counseling and community education. […] Genetic testing is indicated for all bilateral cases of pediatric cataracts. […] The cost per positive diagnosis would be approximately 851.37 USD (R$ 4,400.39) considering the current diagnostic yield for suspected hereditary pediatric cataracts in our institution of 62%. […] Genetic testing is available at specific rare disease centers, and it has been estimated that more than 50% of patients with rare diseases do not have access to them. […] The evolving nature of high-throughput next generating sequencing with improvements in sequencing chemistry and technology, as well as bioinformatics and data interpretation, has enabled a greater volume of testing in a shorter time. […] Accurate information regarding the cost estimation of genetic testing can aid health care policy-makers from middle-income countries in their resource-use assessment for governmental decision-making.

• #20 Cataracts | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/cataracts

• #21 Congenital Cataracts & Pediatric Children’s Cataract | Eye Associates & SurgiCenter NJ

  https://sjeyeassociates.com/congenital-cataracts-vineland/

  The diagnosis of a congenital cataract which is present at birth can be made on the first day of life if a red reflex is not obtained in the newborn nursery. […] Early diagnosis and referral are important since irreversible damage can occur if a congenital cataract is not treated in the first few months of life. […] Because of this a thorough ocular and systemic evaluation should be performed in any child who presents with a cataract. […] A genetic evaluation may be indicated in some cases as well.

• #22 Localization and diagnosis framework for pediatric cataracts based on slit-lamp images using deep features of a convolutional neural network | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0168606

  The proposed CAD framework for slit-lamp images is shown in Fig 2 and primarily consists of three parts: automatic localization for lens ROI, classification and three-degree grading. […] For the three-degree grading, in general, the researcher and ophthalmologist divide the cataract into four grades (normal, mild, moderate and severe), but this grading is too vague and subjective for effective individualized treatment. […] The final therapeutic schedule was determined by the results of these three grading degrees. […] The CNN achieves better performance than the other hand-crafted features. […] The overall performance of our proposed CNN method is significantly better than the representative customized feature methods. […] This work addressed significant needs in pediatric cataract research and may shed a light on other ocular images. […] We also plan to apply the proposed method to other biomedical images and assess its performance and robustness using multiple datasets.

• #23 Localization and diagnosis framework for pediatric cataracts based on slit-lamp images using deep features of a convolutional neural network | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0168606

  Slit-lamp images play an essential role for diagnosis of pediatric cataracts. […] Therefore, it is critical to diagnose pediatric cataracts with high accuracy at early stage, which can help ophthalmologists arrange appropriate and timely treatment to prevent disease progression. […] In recent decades, combined with slit-lamp images and other ocular images, computer aided diagnosis (CAD) methods have become the dominant alternatives for controlling ophthalmic diseases and early treatment and have been initially investigated by scientists, ophthalmologists, and computer vision researchers. […] The complexity of pediatric cataract is manifested primarily as high noise levels and complex disease phenotypes shown in Fig 1. […] Therefore, these factors pose significant challenges for computer-aided automated diagnosis of pediatric cataracts based on slit-lamp images.

• #24 Blood Test Hopes to Improve Treatment for Children with Cataracts | Eye Clinic of Austin

  https://eyeclinicofaustin.com/eye-care-blog/blood-test-hopes-to-improve-treatment-for-children-with-cataracts/

  Researchers in the UK have developed a new blood test, which hopes to improve diagnosis and treatment for children born with congenital cataracts. […] Diagnosing the presence of a cataract is fairly easy, the hard part is determining the cause of the childs cataract. […] The blood test developed analyzes every known DNA mutation that causes cataracts to help speed up diagnosis of the cause. […] Treatment for children with cataracts is tailored to the child. […] In mild cases, no removal is necessary, but in many cases, the cataract must be removed in order for the child to develop his or her best possible eyesight.

• #25 Genetic test speeds up diagnosis for children with cataracts

  https://www.manchester.ac.uk/about/news/genetic-test-speeds-up-diagnosis-for-children-with-cataracts/

  A blood test for children born with cataracts will allow faster diagnosis and more personalised treatment, according to researchers from Manchester. […] „Using next-generation sequencing, we are now able to identify the cause of cataracts in children in a way that is much faster and more cost-effective than the current method,” said Rachel Gillespie, who developed the test and spoke at speaking at the recent British Genetic Medicine conference. […] „At the moment, screening for one gene takes around four weeks. There are more than 100 known genes linked to congenital cataracts, so establishing the cause by screening genes individually can sometimes take years,” said Gillespie. „Our test looks at all of these genes in parallel, so patients can be diagnosed much faster and receive the treatment, clinical management and genetic counselling they need.”

• #26 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 doesnt get a chance to see clear images in the first few months of life. […] If the paediatrician or paediatric nurse suspects that your child has a congenital cataract at birth, they will arrange a referral to an ophthalmologist for a full examination of their eyes. An ophthalmologist would carry out this examination at hospital.

• #27 Pediatric Cataract – StatPearls – NCBI Bookshelf

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

  Routine screening and awareness among parents about leukocoria and strabismus lead to early diagnosis and management. A good preoperative evaluation, intraocular lens (IOL) power calculation, meticulous surgery, and equally efficient postoperative care and visual rehabilitation are important for a favorable outcome. An interdepartmental effort involving pediatrics, anesthesia, ophthalmology, and optometry helps properly and effectively manage pediatric cataracts. […] Managing pediatric cataracts is crucial, as timely intervention is essential for optimal visual recovery. Most children with congenital or developmental cataracts require surgical intervention. The impact of cataracts on visual acuity can be assessed using the red reflex observed during distant direct ophthalmoscopy. Bilateral visually significant cataracts should be removed between 6 to 8 weeks of age, while unilateral visually significant cataracts should be addressed between 4 to 6 weeks.

• #28 Congenital Cataracts & Pediatric Children’s Cataract NJ | The Eye Care & Surgery Center Westfield Warren

  https://newjerseyvision.com/congenital-childrens-cataracts-nj/

  A cataract is an opacification or clouding of the normal crystalline lens. Cataracts can occur at different ages in children. The diagnosis of a congenital cataract which is present at birth can be made on the first day of life if a red reflex is not obtained in the newborn nursery. Early diagnosis and referral are important since irreversible damage can occur if a congenital cataract is not treated in the first few months of life. […] Because of this a thorough ocular and systemic evaluation should be performed in any child who presents with a cataract. A genetic evaluation may be indicated in some cases as well. […] Amblyopia is a major obstacle to the development of good vision in these children. Amblyopia therapy is an important issue in the management of childhood cataracts. A good visual outcome is highly dependent on the compliance with amblyopia treatment.

• #29 Genetic test speeds up diagnosis for children with cataracts

  https://www.manchester.ac.uk/about/news/genetic-test-speeds-up-diagnosis-for-children-with-cataracts/

  As more patients are tested and more knowledge is gained about the genetic basis of the condition, it is hoped that pinpointing the exact mutation responsible will enable doctors to make more accurate predictions regarding how the cataracts may progress and what the outcome of surgery may be. […] „In some cases, we have identified that the cataracts aren’t just a standalone problem, but a symptom of a more complex syndrome,” said Gillespie.

• #30

  https://journals.lww.com/ijo/fulltext/2022/07000/commentary__genetic_testing_in_cases_of_pediatric.83.aspx

  Pediatric cataract is a common cause of childhood blindness. […] Early diagnosis and timely intervention in pediatric cataract cases improve the visual outcomes significantly. […] Accurate pediatric cataract diagnosis is crucial for patients and their families as it facilitates genetic counseling. […] Hence, an attempt should be made to investigate the etiology of congenital cataracts thoroughly with the efficient use of supportive genetic tests. Not only does it establish the etiology of cataract, but also it guides us to approach other associated and undiagnosed systemic conditions.

• #31

  https://link.springer.com/article/10.1007/s12687-024-00708-9

  Up to 25% of pediatric cataract cases are inherited. […] Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling. […] Identifying the molecular causes of pediatric cataracts is important because between 8.3 and 25% of cataracts are inherited and 15% are associated with a systemic disease, where the eye can be a sentinel organ. […] Genetic testing is important since up to 25% of pediatric cataracts are inherited. […] In our cohort, 13 out of 29 families had three or more affected members who could benefit from precise genetic counseling and genetic follow-up. […] In the reference scenario, we estimated that the costs of genetic diagnosis for pediatric cataracts were 700.09 USD (R$ 3.618,48) per patient from the SUS perspective.

• #32 Delayed diagnosis of congenital cataract in preterm infants: Findings from the IoLunder2 cohort study | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0287658

  In a population-based cohort study of children requiring surgery for cataract, we found a third of those with truly congenital disease (ie present at birth), were not detected via the national screening programme to detect cataract. Preterm birth was independently associated with late detection. […] The test used within a screening programme underpins the viability, effectiveness and implementation of that programme. […] Improved communication of the findings of diagnostic examinations to referring bodies is needed, as well as improved data reporting systems for the outcome of screening processes, in order to create a closed audit loop. Further is needed on the clinical effectiveness of innovative screening tools for congenital cataract, and the child, family and care structure or system level challenges and opportunities for the implementation of whole population child health interventions aimed at improving visual outcomes for children born preterm.

• #33 Improving diagnosis for congenital cataract by introducing NGS genetic testing | BMJ Quality Improvement Reports

  https://bmjopenquality.bmj.com/content/5/1/u211094.w4602

  Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. […] The current recommended investigation of patients with bilateral CC is ineffective in identifying a diagnosis. […] Despite the publication of care pathways guiding management and investigation of congenital cataracts, the proportion of cases of congenital cataracts in which the underlying cause is established remains low. […] The utility of NGS testing will further increase with the completion of the 100,000 Genome Project in 2017. This project aims to sequence 100,000 genomes, initially focusing on cancer, infectious, and rare diseases. The completion of this project will further enable NGS to detect mutations associated with even rarer conditions. Overall, we report similar findings to previous studies that demonstrate current recommended investigation for patients with bilateral paediatric cataract is ineffective in identifying a diagnosis. As demonstrated in previous studies, NGS enabled identification of underlying causes of CC in the majority of patients. This QI project enabled a substantial increase in the proportion of patients undergoing genomic testing and receiving a diagnosis within six months, as was originally aimed. NGS may confirm the presence of isolated cataract and exclude systemic associations, as well as provide information on hereditability within a few months. The adoption of such novel investigative techniques is required to be incorporated into clinical care if future care pathways are to improve the rate, efficiency, and speed of diagnosis.

• #34 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. […] Early diagnosis and treatment are very important in terms of visual prognosis. Therefore, one of the most critical steps is recognizing congenital cataract at an early age through postnatal eye screening. The red reflex test is a simple screening test that is important in the detection of many ocular pathologies, especially congenital cataract. […] 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. […] 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.

• #35

  https://www.sightsaversusa.org/eye-conditions/cataracts/childhood-cataracts/

  Cataracts are one of the leading causes of visual impairment and blindness in children. […] It is vital that children with both types are assessed and treated quickly to prevent permanent vision loss. […] Not all cataracts in babies and children have a known cause. […] If a child develops lazy eye due to cataracts, its very difficult to correct the condition after eight years old, because the eye has already finished developing by that age. […] Baby cataracts are often diagnosed soon after birth. […] If treatment is needed, they will usually perform a cataract operation as soon as possible. […] Removing the clouded lens is the only way to restore a childs eyesight and prevent permanent vision loss. […] An operation to treat cataracts can take as little as 20 minutes, and a persons vision can start to return a few hours after surgery. […] A childs vision usually starts to return a couple of hours after surgery.

• #36

  https://apcz.umk.pl/QS/article/view/58250

  Congenital cataracts, a significant cause of childhood blindness, result from genetic mutations, syndromic associations, and environmental factors, with autosomal dominant inheritance and mutations in genes like CRYAA and GJA8 being prevalent. […] This study reviewed literature from 2000 to 2023 on genetic etiology, surgical management, and emerging therapies. […] Genetic mutations in structural proteins such as crystallins and connexins account for over half of cases, emphasizing the critical role of early surgical intervention, particularly intraocular lens (IOL) implantation in children over two years old. […] Emerging approaches, including gene therapy and pharmacological interventions like small-molecule chaperones, hold promise for addressing underlying genetic causes. […] Advances in genetic testing and innovative therapies are reshaping the field, offering the potential for improved outcomes and personalized treatments.

• #37 The paediatric cataract: an overview of the diagnosis and management | Eye News

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

  Cataracts in children can appear in a variety of forms, each presenting in a different way depending on the timing of cataract development. Referral of infants may occur after abnormalities found at the new-born baby check, a new onset squint, but most often due to an absent red reflex. […] There are many identifiable causes of the paediatric cataract, and the clinical examination should always begin with a comprehensive history which elicits any delayed developmental milestones, failure to thrive, and family history of congenital cataracts. […] Examination, diagnosis and treatment of paediatric cataract are only the first steps of a multi-faceted visual rehabilitation journey. […] Early diagnosis is therefore crucial in helping the ophthalmology team develop an individualised treatment plan, limit further visual loss, amblyopia or nystagmus.

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