Materiały źródłowe

• #1 Global Prevalence of Fuchs Endothelial Corneal Dystrophy (FECD) in Adult Population: A Systematic Review and Meta-Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9023201/

  A total of 6660 eligible articles were retrieved from the initial electronic search. Only 4 original works were included in the qualitative and quantitative analysis. Of the 4746 patients included in this meta-analysis (i.e., 2232 male (M) and 2322 female (F)), we retrieved 269 FECD cases (81M; 188F), with a pooled prevalence estimates of 7.33% (95% CI: 4.0812.8%). […] While the total number of people aged 30 years with FECD is nowadays estimated at nearly 300 million, an increase of 41.7% in the number of FECD-affected patients is expected by 2050, when the overall figure is supposed to rise up to 415 million. […] This study provides a reliable figure of the present and future epidemiological burden of FECD globally, which might be useful for the design of FECD screening, treatment, rehabilitation, and related public health strategies.

• #2 Global Prevalence of Fuchs Endothelial Corneal Dystrophy Pinpointed

  https://www.reviewofoptometry.com/article/global-prevalence-of-fuchs-endothelial-corneal-dystrophy-pinpointed

  Fuchs endothelial corneal dystrophy may affect as many as 7% of adults, a number expected to grow in coming years. […] Fuchs endothelial corneal dystrophy may affect more than 7% of adults. […] Based on their findings, the researchers estimated the global prevalence of FECD to be as high as 7.33%. […] The total number of people, older than 30 years, with FECD worldwide will increase from 300 million in 2020 to 415 million in 2050, according to the study authors, who noted that this is mainly the result of the expected growth in the number of older individuals. […] This study provides a reliable figure of the present and future epidemiological burden of FECD globally, which might be useful for the design of FECD screening, treatment, rehabilitation and related public health strategies.

• #2 Global Prevalence of Fuchs Endothelial Corneal Dystrophy (FECD) in Adult Population: A Systematic Review and Meta-Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9023201/

  Overall, we estimated the global prevalence of FECD to be as high as 7.33%, with the highest figures reported in North America, where the prevalence rate of the disease is reported to peak up to 21.62%. […] The number of people with FECD worldwide (30 years) will increase from 300 million in 2020 to 415 million in 2050.

• #3 How common is Fuchs’ corneal dystrophy? — Weekly Glance

  https://glance.eyesoneyecare.com/stories/2022-04-25/how-common-fuchs-corneal-dystrophy-weekly-glance/

  A new study published in the Journal of Ophthalmology is the first meta-analysis to attempt to ascertain the global prevalence of Fuchs’ endothelial corneal dystrophy (FECD) in the adult population. […] Overall, the authors estimated the global prevalence of FECD to be as high as 7.33%, with the highest figures reported in North America, where the prevalence rate of the disease peaked up to 21.62%. […] The authors state that they found only a modest number of epidemiological studies on FECD, the majority of which were conducted in Asia. […] A full and representative coverage of all countries was not achieved. […] Of note, the number of people 30 years old with FECD worldwide is expected to increase from 300 million in 2020 to 415 million in 2050. This mainly results from the expected growth in the number of aged people, which is anticipated to variably affect all continents.

• #4 Global Prevalence of Fuchs Endothelial Corneal Dystrophy Pinpointed

  https://www.reviewofoptometry.com/news/article/global-prevalence-of-fuchs-endothelial-corneal-dystrophy-pinpointed

  Researchers estimate the condition to affect over 7% of adults, a number that will continue to increase as the population ages. […] Fuchs endothelial corneal dystrophy may affect as many as 7% of adults, a number expected to grow in coming years. […] Based on their findings, the researchers estimated the global prevalence of FECD to be as high as 7.33%. […] The total number of people, older than 30 years, with FECD worldwide will increase from 300 million in 2020 to 415 million in 2050, according to the study authors, who noted that this is mainly the result of the expected growth in the number of older individuals. […] To the best of our knowledge, this work represents the first meta-analysis trying to ascertain the global prevalence of FECD in the adult population, the study authors stated. This study provides a reliable figure of the present and future epidemiological burden of FECD globally, which might be useful for the design of FECD screening, treatment, rehabilitation and related public health strategies.

• #5 Fuchs endothelial dystrophy: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy/

  Fuchs endothelial dystrophy is a common condition, affecting approximately 4 percent of people over the age of 40 in the United States. […] For reasons that are unclear, Fuchs endothelial dystrophy affects women two to four times more frequently than men.

• #6 New study quadruples known genetic risk factors for Fuchs dystrophy | ScienceDaily

  https://www.sciencedaily.com/releases/2017/04/170411135846.htm

  Researchers discovered three novel genetic mutations associated with Fuchs endothelial corneal dystrophy, the most common corneal disorder requiring transplantation. […] Approximately 4% of United States adults age 40 and older develop Fuchs dystrophy. […] The new study quadruples the number of known genetic risk factors for Fuchs dystrophy, and helps explain its genetic etiology. […] The researchers also discovered the first sex-specific differences in Fuchs dystrophy genetics. […] Considering that there is currently no clinical screening tool other than family history, this is a significant advance for development of molecular diagnostic tests.

• #7 Fuchs Endothelial Corneal Dystrophy: From One Medical Student to Another

  https://eyerounds.org/tutorials/fuchs-endothelial-corneal-dystrophy-med-student/index.htm

  Fuchs Endothelial Corneal Dystrophy (FECD) is a corneal dystrophy affecting primarily the deepest layer of the cornea, known as the corneal endothelium. It is the most common corneal dystrophy, affecting 4% of the American population over the age of 40, and is the most common indication for corneal transplantation in the US. […] The Krachmer grading scale can be used to classify severity of FECD and track progression of the disease. Grading is based on the characterization of guttae on slit lamp examination. […] Once 4+ guttae is noted on exam, stromal edema, stromal haze, epithelial edema, and epithelial bullae (blisters on the epithelial surface resulting from endothelial pump dysfunction) will be tracked over time, as the presence of visually significant edema is an indication for surgical intervention.

• #8 Fuchs’ Dystophy

  https://www.lei.org.au/services/eye-health-information/fuchs-dystrophy/

  Fuchs dystrophy affects one in every 25 Australians over the age of 40 almost half a million people. […] There is no cure for Fuchs dystrophy, but having regular eye exams after the age of 50 can catch the disease before it starts causing pain and vision loss.

• #9 Fuchs’ endothelial dystrophy | CERAFuchs’ endothelial dystrophy | CERA

  https://www.cera.org.au/conditions/fuchs-endothelial-dystrophy/

  Fuchs’ endothelial dystrophy affects one in every 25 Australians over the age of 40. This is almost half a million people. […] Fuchs’ endothelial dystrophy cannot be prevented. But having regular eye exams after the age of 50 can catch the disease before it starts causing pain and vision loss.

• #10 Prevalence and Economic Burden of Fuchs Endothelial Corneal Dystrophy in the Medicare Population in the United States – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37906001/

  The aim of this study was to assess the prevalence and economic burden of Fuchs endothelial corneal dystrophy (FECD) in patients older than 65 years in the United States. […] The national prevalence of FECD in this population cohort was calculated to be 1.12% in 2019. […] In 2019, FECD case burden in Medicare patients older than 65 years was 284,846 and total estimated FECD case count in the country in this age group was 591,226. […] FECD prevalence was significantly higher in women as compared to men during the 6-year period evaluated in this study. […] The intergroup comparison revealed that FECD prevalence in the White population was significantly higher than all other racial groups ( P 0.0001). […] The estimated prevalence of FECD in the individuals older than 65 years is 1.12% in the United States. […] FECD prevalence is significantly higher in women and White population compared with other ethnicities.

• #11

  https://journals.lww.com/corneajrnl/fulltext/2024/08000/prevalence_and_economic_burden_of_fuchs.15.aspx

  The aim of this study was to assess the prevalence and economic burden of Fuchs endothelial corneal dystrophy (FECD) in patients older than 65 years in the United States. […] The national prevalence of FECD in this population cohort was calculated to be 1.12% in 2019. […] FECD prevalence was significantly higher in women as compared to men during the 6-year period evaluated in this study. […] The intergroup comparison revealed that FECD prevalence in the White population was significantly higher than all other racial groups (P 0.0001). […] The estimated prevalence of FECD in the individuals older than 65 years is 1.12% in the United States. FECD prevalence is significantly higher in women and White population compared with other ethnicities.

• #12

  https://journals.lww.com/ijo/fulltext/2022/07000/clinical_profile_and_demographic_distribution_of.29.aspx

  Studies from India have shown that FECD accounted for 41.89% of the overall corneal dystrophies and accounted for 20.4% of the endothelial keratoplasty that were performed. […] The overall prevalence of FECD was 0.08% in patients who presented between 2018 and 2021 (four-year period). […] The disease is known to be commoner in females. […] A similar observation was noted in this study where female preponderance was seen in 65.53%. […] Our study found a significantly higher prevalence in higher socioeconomic status. […] The need for EK was significantly higher in the 40 years age group. […] This study aimed to describe the epidemiology and clinical presentation of Fuchs endothelial dystrophy in three million new patients presenting to a multi-tiered ophthalmology hospital network in India. […] The findings show that Fuchs endothelial dystrophy more commonly affects females presenting during the seventh decade of life.

• #13 Fuchs Endothelial Dystrophy: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1193591-overview

  No race is immune from this condition. […] Females are affected more than males (3:1). […] Fuchs endothelial dystrophy can be differentiated into early-onset (manifesting in the third decade of life) and late-onset (manifesting in the sixth decade of life, on average). However, the root of the condition is evident 1 or 2 decades earlier in the form of profuse cornea guttata in the central part of the cornea.

• #13 Fuchs Endothelial Dystrophy: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1193591-overview

  Exact incidence of Fuchs endothelial dystrophy is not known. It begins with the formation of guttate excrescences. Cornea guttata is seen quite often. Frequency of cornea guttata increases with age. After age 40 years, 70% of patients have cornea guttata. Only 0.1% of these patients have epithelial edema and bullae formation. […] A cross-sectional study in Japan found the prevalence of cornea guttata to be 4.1% among residents aged 40 years or older using only specular microscopic criteria. Older age, female sex, and a thinner cornea were independently associated with a higher risk of cornea guttata. […] Once corneal decompensation starts, the course is relentless. In a matter of months or years, the vision is progressively disturbed. Finally, the patient is visually crippled. In addition, problems caused by repeated bullae formation, ulceration, scarring, and vascularization occur. If left untreated, the condition ends in near blindness, which may be painful.

• #14 Orphanet: Fuchs endothelial corneal dystrophy

  https://www.orpha.net/en/disease/detail/98974

  The exact prevalence is not known but extreme geographical variability has been reported. FECD is the most prevalent corneal dystrophy in the USA but has been found to be uncommon in Saudi Arabia and in Singaporean Chinese, and very rare in Japan. […] The condition is more common and more severe in women (sex ratio 3-4:1). Patients with FECD are initially asymptomatic. Clinical onset is generally in the 5th or 6th decade of life. […] The clinical course often spans 10 to 20 years. […] Although most patients with FECD lack a positive family history, blood relatives sometimes manifest corneal guttae. FECD may also affect siblings and two or more successive generations, apparently as an autosomal dominant disorder having incomplete penetrance, but a simple autosomal dominant pattern is unlikely.

• #15 What is Fuchs Dystrophy? | Harvard Medical School Department of Ophthalmology

  https://eye.hms.harvard.edu/book/what-fuchs-dystrophy

  Fuchs dystrophy is significantly more prevalent in women and women account for 75% of corneal transplants performed for this condition. […] Although Fuchs has a genetic basis, most commonly due to TCF4 gene mutation, it does not cause symptoms or affect vision until middle age or later in life. […] Fuchs dystrophy has 4 stages: […] Stage 1: Early findings of central non-confluent guttae. Early symptoms of glare. Stage 2: The guttae become confluent, causing more glare and loss of contrast sensitivity. Stage 3: There is onset of corneal edema leading to cloudy vision, most commonly in the morning, that clears up during the day. Stage 4: The edema becomes more severe, causing blurry or hazy vision to persist throughout the day.

• #16 Ultraviolet Light Exposure Identified as Factor Linked to Eye Disease Fuchs’ Endothelial Corneal Dystrophy – FOCUS

  https://focus.masseyeandear.org/ultraviolet-light-exposure-identified-as-factor-linked-to-eye-disease-fuchs-endothelial-corneal-dystrophy/

  FECD is a complex disorder that has multiple genetic factors that cause the disease to manifest in a similar way despite the different backgrounds, explained Dr. Jurkunas, who led the study and performs corneal and refractive surgery at Mass. Eye and Ear. […] Some studies have estimated 1 to 4 percent of the U.S. population may have FECD, and research has shown the disease is far more common in women. FECD is a leading cause of corneal transplantation worldwide, with an estimated 75 percent of these transplant cases occurring in women. […] Future studies from her group will look at the interplay between genetic and environmental factors to address why certain people, notably women, are more likely to develop FECD than others. Many people get significant exposure to UV light but not everyone develops disease. More epidemiological studies are needed to better determine this risk, but for now, people with genetic risk factors for FECD may want to wear protective eye wear and limit unnecessary light exposure.

• #17 Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity | medRxiv

  https://www.medrxiv.org/content/10.1101/2024.09.29.24314217v1.full-text

  The high proportion of females in the total FECD cohort (2.20 female-to-male ratio) validates numerous previous reports. For comparison, females comprise 52.0% (1.04 ratio) of the population of England and Wales over 40 years of age, which is significantly lower than the sex ratio in the total FECD cohort. The Exp+ subgroup also exhibited a higher proportion of females than the general population of England and Wales. In the Exp- subgroup 74.4% were female, which is significantly higher than both the general population and the Exp+ subgroup. […] The median age at first keratoplasty for the Exp+ patients was significantly older than for the Exp- patients. This is likely due to a broader age distribution within Exp-, where there was a subset who had surgery at a relatively young age. The observed ratio of biallelic to monoallelic Exp+ cases, derived from homozygous to heterozygous Exp+ allelic ratios, was significantly higher in the FECD cohort compared to the expected ratio of Exp+ cases in an aged, unaffected group, suggesting that disease penetrance is higher in carriers of two expanded copies of CTG18.1.

• #18 Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity | medRxiv

  https://www.medrxiv.org/content/10.1101/2024.09.29.24314217v1.full-text

  Fuchs endothelial corneal dystrophy (FECD) is a bilateral, progressive disease of the corneal endothelium that is a leading indication for keratoplasty in high-income countries. It is a genetically heterogeneous, variably penetrant, autosomal dominant trait. Most studies report a preponderance of females, with a ratio of 1.5 to 3.7 female per male. The disease appears to be more prevalent in European than East Asian or Middle Eastern populations. A recent FECD comorbidity association study demonstrated that female sex and European ancestry increase the risk of developing FECD by 4.6 fold and 5.5 fold, respectively. Depending on ancestry, 17% to 81% of FECD patients in these cohorts have one or more expanded copies of an intronic CTG repeat within the TCF4 gene (termed CTG18.1), making it, by far, the most common trinucleotide repeat expansion disease.

• #19 Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity | medRxiv

  https://www.medrxiv.org/content/10.1101/2024.09.29.24314217v1

  Importance Understanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) is essential for developing gene-targeted therapies. […] Objective To investigate associations between demographic data and age at first keratoplasty in a large genetically refined FECD cohort. […] Results Within the total cohort (n=894), 77.3% were Exp+. The majority of European (668/829, 80.6%) and South Asian (14/22, 63.6%) patients were Exp+, whereas the majority of those with African (30/37, 81.1%), East Asian (2/3,66.7%), and American Admixture (2/3, 66.7%) ancestry were Exp-. […] The median (IQR) age at first keratoplasty of the Exp+ patients (68.2 [63.273.6] years) was older than the Exp-patients (61.3 [52.670.4] years; P.001). […] The ratio of biallelic to monoallelic expanded alleles was higher in the FECD cohort compared to an unaffected control group (P.001), indicating that two Exp+ alleles increase disease penetrance compared to one expansion.

• #20 Epidemiology and Genetic Basis of Fuchs Endothelial Corneal Dystrophy | Ento Key

  https://entokey.com/epidemiology-and-genetic-basis-of-fuchs-endothelial-corneal-dystrophy/

  In the Reykjavik Eye Study, the prevalence of any primary central corneal guttae in Icelandic individuals over the age of 55, based on both slit-lamp and specular microscopy, was 11 % for females and 7 % for males. […] In the Kumejima Study, the prevalence of any central corneal guttae in Japanese residents age 40 years or older, based on specular microscopy alone, was 4.1 % overall. […] Interestingly, a retrospective histopathologic study by Santo et al. found that the frequency of FECD in corneal specimens from Japanese patients undergoing keratectomy or keratoplasty over a 34-year period from 1959 through 1992 was only 0.7 %. […] Unlike early onset FECD, a female predominance of 2.5-3.5:1 has also been reported in late-onset FECD. […] Late-onset FECD is more common than the early onset form.

• #20 Epidemiology and Genetic Basis of Fuchs Endothelial Corneal Dystrophy | Ento Key

  https://entokey.com/epidemiology-and-genetic-basis-of-fuchs-endothelial-corneal-dystrophy/

  Fuchs endothelial corneal dystrophy (FECD) was first described in 1910 by Austrian ophthalmologist Ernst Fuchs. […] Since his initial description, significant progress has been made over the past century in our understanding of the epidemiology, genetics, and pathophysiology of this endothelial dystrophy. […] In a global survey of corneal transplantation and eye banking by Gain et al., FECD was the primary indication for all corneal transplantations performed worldwide, accounting for 39 %, followed by keratoconus (27 %) and infectious keratitis sequelae (20 %). […] Data from the Eye Bank Association of America have similarly identified FECD as the most common indication for corneal transplantation, accounting for 22 % of all corneal transplants in the USA. […] In a 1967 study of 1,016 people without any known ocular pathology in Jacksonville, Florida, Lorenzetti et al. reported a 3.9 % prevalence of confluent corneal guttae in individuals aged 40 or older.

• #21 Fuchs’ Endothelial Dystrophy – EyeWiki

  https://eyewiki.org/Fuchs%E2%80%99_Endothelial_Dystrophy

  Fuchs endothelial dystrophy is a non-inflammatory, sporadic or autosomal dominant, dystrophy involving the endothelial layer of the cornea. […] Fuchs dystrophy is often inherited in an autosomal dominant manner. This means if you have an inherited form of Fuchs endothelial dystrophy there is a 50% chance you will pass it on to your children. […] Fuchs dystrophy is rarely seen in people younger than 30 to 40 years of age and seems to present slightly earlier in women. […] The most prevalent genetic risk factor for Fuchs dystrophy is the CTG18.1 trinucleotide repeat expansion in TCF4. […] Environmental risk factors include smoking and body mass index. In the Reykjavik Eye Study, participants with a 20-pack year history of smoking experienced more than double the risk of cornea guttata. Higher weight and body mass index were associated with decreased risk of cornea guttata. […] The prognosis for patients with Fuchs’ endothelial dystrophy is excellent. The various surgical treatments available today have very good success rates.

• #22 Fuchs endothelial corneal dystrophy: for professionals – Gene Vision

  https://gene.vision/knowledge-base/fuchs-endothelial-corneal-dystrophy-for-doctors/

  1% (FECD type 3 secondary to TCF4 mutations) […] Most common cause of FECD […] About 75% of Caucasian FECD are due to CTG trinucleotide repeat (CTG18.1 allele) expansion (50 copies) […] Disease severity associated with repeat length in Caucasian populations […] Clinical features in late-onset FECD tend to be detected in the 4th or 5th decade of life (female predominance with a ratio of 3.5:1) […] Mutations in all the identified genes and chromosomal loci are inherited in an autosomal dominant manner. The genotypes associated with late-onset Fuchs endothelial corneal dystrophy (FECD) have incomplete penetrance with variable expressivity while COL8A2 mutations causing early-onset FECD are more highly penetrant.

• #23 Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics—Bowman Club Lecture | BMJ Open Ophthalmology

  https://bmjophth.bmj.com/content/7/1/e001103

  Although FECD is now known to have a strong genetic component, this was not initially recognised. Inherited cases were thought to be a small proportion of total cases. […] In 2010, a comparatively small-scale genome wide association study provided compelling evidence for FECD being surprisingly genetically homogenous. The study identified a common polymorphism, located within an intronic region of the TCF4 gene on Chromosome 18, that conferred up to a 30-fold increased risk for FECD. […] Approximately 75% of FECD cases will have at least one expanded allele, defined as 50 copies of the repeat. […] Given the majority of FECD cases have CTG18.1 expansions, researchers are now focused on determining how expansion of this non-coding element causes FECD. […] Because CTG18.1 expansions are so commonly associated with FECD, and harbouring a single CTG18.1 expansion confers a 76-fold risk of developing adult-onset FECD, there is a strong argument for screening CTG18.1 as a confirmatory step in the diagnostic process.

• #24

  https://omim.org/entry/136800

  Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. […] The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. […] More common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (610206) on chromosome 20p13 (FECD4; 613268), in the ZEB1 gene (189909) on chromosome 10p11.2 (FECD6; 613270), and in the AGBL1 gene (615496) on chromosome 15q25 (FECD8; 615523). […] Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; 610158), 18q21.2-q21.32 (FECD3; 613267), 5q33.1-q35.2 (FECD5; 613269), and 9p (FECD7; 613271).

• #25 The Optometrist’s Guide to Fuchs Endothelial Corneal Dystrophy – Modern Optometry

  https://modernod.com/articles/2024-oct/the-optometrists-guide-to-fuchs-endothelial-corneal-dystrophy

  Fuchs endothelial corneal dystrophy (FECD) is a genetic condition that most commonly affects women and typically develops in the sixth decade of life. […] FECD is a genetic condition inherited in an autosomal dominant fashion with incomplete penetrance. […] As is common with most corneal dystrophies, FECD tends to be central, slowly progressive, and bilateral (though it may be asymmetric in some cases). […] Early-onset FECD can be present at birth, depending on which gene is affected, but it most commonly develops in the sixth decade of life, with a female predilection of nearly 3:1. […] Patients diagnosed with FECD should be educated about its hereditary nature and their family members monitored for it. […] Clinical guidelines recommend patients with FECD be observed every 6 months or sooner if symptoms worsen.

• #26 Epidemiology and Genetic Basis of Fuchs Endothelial Corneal Dystrophy | Ento Key

  https://entokey.com/epidemiology-and-genetic-basis-of-fuchs-endothelial-corneal-dystrophy/

  Although the median age of onset for the late-onset form of FECD is at least four decades later than that of the early onset form, both display a similar linear rate of disease progression, with advancement in clinical severity grade occurring on average every 5 years. […] Several risk factors in addition to gender have been associated with the development of central guttae and degree of FECD. […] In the Reykjavik Eye Study, which was a cross-sectional, random, population-based study of individuals 55 years and older, participants with more than a 20 pack/year smoking history had a 2.2-fold increased risk of development of any primary central guttae. […] Higher weight and body mass index were additionally associated with a 2.5 and 7 % respective decrease in the risk of any central corneal guttae. […] In the Fuchs Genetics Multi-Center Study, both female sex and smoking were associated with an increased risk, 34 % and 30 %, respectively, of advanced FECD (grades 4-6).

• #27 Fuchs Dystrophy: From Genetics to App | New & Events | Shiley Eye Institute | UC San Diego

  https://shileyeye.ucsd.edu/news-events/57

  Fuchs endothelial corneal dystrophy is one of the leading reasons for ~ 40,000 corneal transplants that are performed annually in the United States. It causes decreased vision as a result of endothelial cell loss and corneal swelling. […] Dr. Afshari has been studying the genetics of Fuchs Corneal Dystrophy for over a decade and has collected over 1500 patients DNA sample with this disease. […] Dr. Afshari’s research on Fuchs represents some of the most important opportunities to make advances both in our fundamental understanding of corneal diseases, as well as in bringing new treatments forward.

• #28

  https://www.aao.org/topic-detail/fuchs-endothelial-dystrophy-europe

  Fuchs endothelial corneal dystrophy (FECD) is a common indication for corneal transplantation, accounting for approximately 20% of all penetrating keratoplasties. Central guttae without corneal edema have been observed in 3.9%9.6% of eyes in patients greater than age 40, and in approximately 10.5% of eyes in patients greater than age 60 (Eghrari et al, 2010). […] Both early and late onset forms have female predominance at a ratio of 2.5:1 to 3:1. […] Incidence of Penetrating Keratoplasties for Fuchs Dystrophy Source Country Incidence of cases Al-Yousef et al, 2004 United Kingdom 9.3% Siganos et al, 2010 Greece 4.6% 4.6% Wylegala et al, 2005 Poland 9.0% 9.0%

• #29

  https://www.aao.org/topic-detail/fuchs-endothelial-dystrophy-asia-pacific

  Fuchs endothelial corneal dystrophy (FECD) is a common indication for corneal transplantation, accounting for approximately 20% of all penetrating keratoplasties. Central guttae without corneal edema have been observed in 3.9%9.6% of eyes in patients greater than age 40, and in approximately 10.5% of eyes in patients greater than age 60 (Eghrari et al, 2010). […] Both early and late onset forms have female predominance at a ratio of 2.5:1 to 3:1. […] The Singapore Corneal Transplant Study found that 7.1% of penetrating keratoplasties performed between 1991 and 2006 at a single tertiary eye center were for Fuchs dystrophy (Tan et al, 2008).

• #30 Fuchs Endothelial Dystrophy | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20818

  Determining the incidence and prevalence of FED is challenging, as many individuals with corneal guttata never develop the disease, and symptoms often take decades to manifest. […] Although corneal guttata may occur in up to 4% of adults older than 40 in the U.S., they are less frequently associated with corneal edema, and many individuals with guttata do not receive a diagnosis of FED. […] Several studies have documented the incidence and prevalence of central corneal guttata without edema. […] Evidence suggests that FED is more prevalent in Europe than in other regions, with a higher proportion of corneal transplants for FED in Europe and the U.S. compared to Asia, where FED rates are lower. […] Age and gender significantly influence disease development, with adults older than 40 and women at higher risk. […] Reported female-to-male ratios range from 2.5:1 to 3:1. […] A rare early-onset form of FED presents in the 1st decade of life and has an equal female-to-male ratio.

• #31 Prevalence and Economic Burden of Fuchs Endothelial Corneal Dystrophy in the Medicare Population in the United States – ScienceOpen

  https://www.scienceopen.com/document?vid=29085ff4-1b02-4eda-b9e5-eca50f7dd8bb

  The aim of this study was to assess the prevalence and economic burden of Fuchs endothelial corneal dystrophy (FECD) in patients older than 65 years in the United States. […] A retrospective analysis of the Medicare data reported to the Vision and Eye Health Surveillance System including patients diagnosed with FECD between 2014 and 2019 was performed. […] The national prevalence of FECD in this population cohort was calculated to be 1.12% in 2019. […] In 2019, FECD case burden in Medicare patients older than 65 years was 284,846 and total estimated FECD case count in the country in this age group was 591,226. […] FECD prevalence was significantly higher in women as compared to men during the 6-year period evaluated in this study. […] The intergroup comparison revealed that FECD prevalence in the White population was significantly higher than all other racial groups (P < 0.0001). [...] The estimated prevalence of FECD in the individuals older than 65 years is 1.12% in the United States. [...] FECD prevalence is significantly higher in women and White population compared with other ethnicities.

• #32 A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation | Communications Biology

  https://www.nature.com/articles/s42003-024-06046-3

  Fuchs endothelial corneal dystrophy (FECD) is the most common corneal dystrophy, affecting more than 5% of people older than 40 years of age, and is the leading indication for corneal transplantation (keratoplasty) in the United States. […] Risk may also differ across populations; lower rates of FECD diagnosis have been observed in African Americans in both clinical settings and Medicare claims. Similarly, examining FECD by genetic ancestry in the Department of Veterans Affairs Million Veteran Program (MVP), we found significantly reduced prevalence in participants of admixed African (AFR) and Hispanic/Latino (HIS) continental ancestries relative to European ancestry (EUR). […] Here, we leverage genetic and clinical data provided by the MVP to conduct the largest GWAS analysis of FECD, and to the best of our knowledge, the first multi-ancestry meta-analysis. We confirm the four previously reported loci, including the presence of the TCF4 locus in AFR and HIS, and present eight novel loci, expanding our knowledge of the genetic drivers of FECD.

• #33 A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation | Communications Biology

  https://www.nature.com/articles/s42003-024-06046-3

  The MVP EUR discovery scan replicated all four known FECD GWAS loci and identified three novel loci at SSBP3, THSD7A, and PIDD1. […] In the multi-ancestry meta-analysis, the four previously reported loci attained GWS, and we identified the same eight novel FECD loci emerging at GWS from the EUR meta-analysis: LAMA5, LAMB1, COL18A1, SSBP3, THSD7A, RORA, PIDD1, and HS3ST3B1. […] Our findings further highlight the importance of dysregulated ion balance in FECD and indicate a pleiotropic connection to kidney function at TCF4.

• #34 Applications of Imaging Technologies in Fuchs Endothelial Corneal Dystrophy: A Narrative Literature Review

  https://www.mdpi.com/2306-5354/11/3/271

  Advances in technology have led to the development of anterior segment imaging modalities that can be useful for the monitoring of FECD, such as anterior segment optical coherence tomography (AS-OCT), Scheimpflug corneal tomography, specular microscopy, and in vitro confocal microscopy. […] The results of the studies introduced in this review suggest that the integration of image processing technology and AI into imaging technology may further enhance the reliability of these technologies, which is critical for the optimal management of FECD.

• #35 Fuchs’ Endothelial Corneal Dystrophy evaluation using a high-resolution wavefront sensor | Scientific Reports

  https://www.nature.com/articles/s41598-024-71480-6

  Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, asymmetric, and low progression corneal disease characterized by morphologic changes in the endothelial cells (pleomorphism or polymegatism), the presence of guttae (excrescences from the Descemet Membrane) as its main hallmark, and edema in the severe stages. This disease usually appears at the age of fifty years, and its progression will take 10-20 years, being more common in females than in males. The literature states that it is associated with inherence and other ocular conditions such as glaucoma, keratoconus, or keratitis, while the prevalence varies among endemic populations, being higher in Caucasians than in the Asian population. The usual exploration of this disease is performed using the slit-lamp to evaluate the status of the cornea (the presence of guttae, bullae, or corneal scarring). Several authors expressed the relevance of a quantitative observation of guttae distribution due to its benefit in the diagnosis and prognostic purposes, the effect of guttae on the quality of vision, and determining surgical indications for endothelial surgery in eyes with mild FECD. Therefore, many studies have quantitatively assessed the distribution of guttae using slit-lamp images, applying imaging treatment and morphological segmentation algorithms. The aim of this work is to objectively evaluate the applicability of the mentioned sensor using a custom-designed Automatic Guttae Detection Method (AGDM) capable of distinguishing between healthy and pathological eyes with FECD using phase information (concretely using the high-pass filter map). The sensor is a value tool to objectively diagnose and monitor this pathology through wavefront phase changes.

• #36 Fuchs Endothelial Corneal Dystrophy Market to Exhibit

  https://www.globenewswire.com/news-release/2024/07/31/2922119/0/en/Fuchs-Endothelial-Corneal-Dystrophy-Market-to-Exhibit-Promising-Growth-During-the-Study-Period-2020-2034-DelveInsight.html

  Fuchs endothelial corneal dystrophy (FECD) is a progressive eye disorder that affects the cornea, the transparent outer layer of the eye. […] The FECD epidemiology section provides insights into the historical and current FECD patient pool and forecasted trends for the 7MM. […] The FECD market report proffers epidemiological analysis for the study period 20202034 in the 7MM segmented into: Total Diagnosed Prevalent Cases of Fuchs Endothelial Corneal Dystrophy, Gender-specific Cases of Fuchs Endothelial Corneal Dystrophy, Age-specific Cases of Fuchs Endothelial Corneal Dystrophy, Grade-specific Cases of Fuchs Endothelial Corneal Dystrophy. […] The anticipated introduction of emerging therapies with improved efficacy and a further improvement in the diagnosis rate are expected to drive the growth of the FECD market in the 7MM.

• #37 Fuchs Dystrophy – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506836-fuchs-dystrophy-market-insight-epidemiology-market.html

  The Fuchs Dystrophy epidemiology division provide insights about historical and current Fuchs Dystrophy patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Fuchs Dystrophy epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Fuchs Dystrophy epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

• #38 Fuchs Endothelial Corneal Dystrophy Market Report 2034: Epidemiology Data, Therapies, Latest Approvals by DelveInsight

  https://www.einpresswire.com/article/726453119/fuchs-endothelial-corneal-dystrophy-market-report-2034-epidemiology-data-therapies-latest-approvals-by-delveinsight

  Fuchs Endothelial Corneal Dystrophy EpidemiologyThe epidemiology section provides insights into the historical, current, and forecasted epidemiology trends in the seven major countries (7MM) from 2020 to 2034. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. The epidemiology section also provides a detailed analysis of the diagnosed patient pool and future trends. […] DelveInsights analyst estimate that approximately 18.9 million Diagnosed Prevalent Cases of FECD were found in 2022 in the 7MM. The United States exhibited the highest diagnosed prevalent population of FECD, as compared to other 7MM countries. As per DelveInsights estimations, the Total Diagnosed Prevalent Cases of FECD in the US was around 6.5 million in 2022 and is projected to increase during the forecast period owing to the increasing awareness among the prevalent population.

• #39 Fuchs Endothelial Corneal Dystrophy Market Report 2034: Epidemiology Data, Therapies, Latest Approvals by DelveInsight

  https://www.einpresswire.com/article/726453119/fuchs-endothelial-corneal-dystrophy-market-report-2034-epidemiology-data-therapies-latest-approvals-by-delveinsight

  According to DelveInsights estimates, the Total Diagnosed Prevalent Cases of FECD in EU4 and the UK were found to be 9.2 million in 2022. Throughout the study period, it is anticipated that there will be a substantial increase in cases for all contributing countries. The highest proportion of FECD cases was reported in Germany among the EU4 countries, while the least number of cases was found in Spain. […] The estimates show the Total Diagnosed Prevalent Cases of FECD in Japan was found to be around 3 million in 2022, which is estimated to decrease by 2034 because of the decreasing country population. […] The Gender-specific Cases of FECD in the 7MM were ~12.3 million for females and ~6.6 million for males in 2022 and are expected to increase within the forecast period (20232034). The increased prevalence in females is likely due to a combination of factors, including gender differences in behavior and neural development, and others.

• #40 Fuchs Endothelial Corneal Dystrophy Market Report 2034: Epidemiology Data, Therapies, Latest Approvals by DelveInsight

  https://www.einpresswire.com/article/726453119/fuchs-endothelial-corneal-dystrophy-market-report-2034-epidemiology-data-therapies-latest-approvals-by-delveinsight

  According to the analysis performed by DelveInsight’s experts, the Age-specific Cases of FECD were categorized into 4049, 5059, 6069, 7079, and 80 years. The higher number of cases (~1.9 million) was accounted for by the 5059 year age group in 2022 in the US. […] The Grade-specific Cases of FECD were categorized into Grade 13 and Grade 46. According to DelveInsight estimates, patients with Grade 13 FECD were higher (~6.8 million) than patients with Grade 46 FECD (~2.4 million) in the EU4 and the UK. […] Fuchs Endothelial Corneal Dystrophy Epidemiology Segmentation:The Fuchs Endothelial Corneal Dystrophy market report proffers epidemiological analysis for the study period 20202034 in the 7MM segmented into:Total Prevalence of Fuchs Endothelial Corneal DystrophyPrevalent Cases of Fuchs Endothelial Corneal Dystrophy by severityGender-specific Prevalence of Fuchs Endothelial Corneal DystrophyDiagnosed Cases of Episodic and Chronic Fuchs Endothelial Corneal Dystrophy

• #41 Fuchs Endothelial Corneal Dystrophy Market to Exhibit

  https://www.globenewswire.com/news-release/2024/07/31/2922119/0/en/Fuchs-Endothelial-Corneal-Dystrophy-Market-to-Exhibit-Promising-Growth-During-the-Study-Period-2020-2034-DelveInsight.html

  However, several factors may impede the growth of the FECD market. The lack of universal guidelines regarding disease diagnosis and treatment impacts the treatment regime for the patient, making it difficult to diagnose FECD at an early stage due to its late onset nature and variable clinical presentation, which in turn limits the availability of accurate prevalence figures for the disease.

Zobacz więcej