Fuchs endothelial dystrophy

Published Categorized as Genetics
Fuchs endothelial dystrophy

Fuchs endothelial dystrophy (FED) is a rare genetic eye disorder that affects the cornea, the clear, dome-shaped front surface of the eye. This condition is characterized by progressive corneal endothelial cell loss, leading to corneal swelling, vision impairment, and in severe cases, corneal clouding. FED is thought to be inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Although FED is relatively rare, it is a significant cause of corneal transplantation in many countries. It typically presents in middle-aged or older individuals, and its frequency increases with age. FED is more common in women than men. In the early stages, affected individuals may not exhibit any symptoms, but as the disease progresses, they may experience blurred or hazy vision, glare, and difficulty seeing at night. These symptoms are caused by the swelling and thickening of the cornea, which affects its ability to bend and focus light properly.

FED was first described by the German ophthalmologist Ernst Fuchs in 1910 and is named after him. Over the years, numerous studies have been conducted to better understand the causes and inheritance patterns of FED. Scientists believe that mutations in several genes may contribute to the development of FED, including the TCF4 gene on chromosome 18. Researchers have also identified genetic variations associated with early-onset FED, which typically occurs before the age of 40. However, further research is needed to fully understand the role of these genes in the development and progression of FED.

Genomic studies have provided valuable insights into the underlying genetic mechanisms of FED. The gene catalog (Genetic Testing Registry) contains information about the different genes associated with FED and provides additional resources for genetic testing and counseling. The Online Mendelian Inheritance in Man (OMIM) database also provides a comprehensive catalog of genes, inheritance patterns, and associated clinical features of multiple diseases, including FED. These resources are valuable tools for researchers and healthcare providers looking to learn more about FED and provide support and information to affected individuals and their families.

In addition to scientific research and genetics, advocacy organizations such as the Fuchs Endothelial Dystrophy Project, the Cornea Research Foundation of America, and the Fuchs’ Dystrophy Research Alliance play a crucial role in raising awareness, supporting patients, and funding research to improve the diagnosis and treatment options for FED. ClinicalTrials.gov also provides information on ongoing clinical trials and studies related to FED, offering hope for novel treatments and interventions in the future.

Overall, Fuchs endothelial dystrophy is a rare corneal condition that can result in significant vision impairment. It is caused by mutations in several genes and is inherited in an autosomal dominant pattern. Further research is needed to understand the complex genetic and environmental factors that contribute to the development and progression of FED. The availability of genetic testing, clinical studies, and advocacy resources provides support and hope for patients and their families affected by this condition.

Frequency

The frequency of Fuchs endothelial dystrophy is thought to be more common in individuals of European descent. It affects both males and females, although there may be a slight female predominance.

Research into the causes of Fuchs endothelial dystrophy is ongoing, but it is believed to have a genetic component. Several genes have been identified that may contribute to the condition, including COL8A2 and TCF4. Inheritance is thought to be autosomal dominant, meaning that one copy of the mutated gene is enough to cause the disease.

There are varying estimates of the frequency of Fuchs endothelial dystrophy. According to OMIM, the Online Mendelian Inheritance in Man catalog, it is estimated to affect about 4% of individuals over the age of 40 in the general population. However, some studies have suggested that the frequency may be higher, ranging from 4% to 9% in certain populations.

Early-onset Fuchs endothelial dystrophy, which typically manifests before the age of 40, is less common and has been associated with different genes, such as SLC4A11 and ZEB1.

Additional research is needed to better understand the frequency and causes of Fuchs endothelial dystrophy. Ongoing scientific studies, including genome-wide association studies, genetic testing, and clinical trials, are providing valuable information about the condition.

For additional information and support, several resources are available. The Fuchs Corneal Dystrophy Center provides resources for patients and families affected by the condition. The Fuchs Endothelial Corneal Dystrophy (FECD) Advocacy and Research Network is dedicated to raising awareness and funding research for this rare disease.

Learn more about Fuchs endothelial dystrophy from scientific articles and genetic studies cited in PubMed. There are also clinical trials for Fuchs endothelial dystrophy listed on ClinicalTrials.gov, which may provide opportunities for patients to participate in research and access novel treatments.

Causes

Fuchs endothelial dystrophy is a rare condition that is thought to have a genetic basis. Several genes have been associated with the development of Fuchs endothelial dystrophy, including COL8A2 and TCF4. Mutations in these genes can contribute to the disease, although the exact mechanisms are still not fully understood.

Research studies have identified novel genes within the human genome that may also play a role in the development of Fuchs endothelial dystrophy. Genome-wide association studies have found associations between certain genetic variations and the risk of developing the disease. These findings provide valuable insights into the underlying causes of Fuchs endothelial dystrophy and may contribute to the development of new diagnostic and therapeutic approaches.

In addition to genetic factors, other causes of Fuchs endothelial dystrophy have been identified. Age and family history are known risk factors for developing the condition. Furthermore, environmental factors and certain diseases, such as diabetes, have been associated with an increased risk of developing Fuchs endothelial dystrophy.

Clinical studies have shown that Fuchs endothelial dystrophy tends to run in families, suggesting an inherited component to the condition. Various inheritance patterns have been described, including autosomal dominant and autosomal recessive inheritance. A genetic counselor can provide more information on the specific inheritance patterns associated with Fuchs endothelial dystrophy.

Further research is needed to fully understand the causes of Fuchs endothelial dystrophy and to develop effective treatments. Ongoing studies and clinical trials listed on websites like clinicaltrials.gov provide valuable resources for patients, clinicians, and researchers interested in learning more about this rare disease.

References:

  • Eghrari AO, et al. Collagen-related genes and the risk of Fuchs endothelial corneal dystrophy. N Engl J Med. 2010.
  • Vithana EN, et al. Collagen-induced apoptosis in Fuchs endothelial corneal dystrophy: a clinical and genetic study. Lancet. 2012.
  • Gregory SG, et al. Genomic and functional analysis of the collagen type VIII alpha 2 gene (COL8A2) in Fuchs endothelial corneal dystrophy. Hum Genet. 2009.
  • Omotayo OO, et al. Inherited corneal diseases: The evolving genetic landscape. Surv Ophthalmol. 2017.

Learn more about the genes associated with Fuchs endothelial dystrophy

Fuchs endothelial dystrophy (FED) is a rare condition that causes progressive loss of vision due to the dysfunction of the corneal endothelium. Many genes have been found to be associated with FED, and understanding these genes is crucial in advancing the knowledge of this condition. In this section, we will discuss some of the important genes that have been identified to contribute to FED.

  • COL8A2: This gene has been found to be associated with early-onset FED in certain families. Mutations in the COL8A2 gene can lead to abnormalities in type VIII collagen, which is an important component of the corneal endothelium.
  • Solute Carrier Family 4 Member 11 (SLC4A11): Mutations in this gene have also been found to be a cause of FED. SLC4A11 is involved in the transport of bicarbonate ions across cell membranes, and its dysfunction can lead to the development of FED.
  • TCF4: Some studies have shown that the TCF4 gene is associated with late-onset FED. Variations in the TCF4 gene have been found to be more common in individuals with FED compared to those without the condition.
  • Others: In addition to these genes, other genetic factors have also been found to play a role in FED. Further research is needed to fully understand the complex genetic inheritance patterns and mechanisms involved in this condition.

Learning more about the genes associated with FED can provide valuable insights into the underlying causes and mechanisms of the disease. It can also support the development of targeted therapies and treatment options for patients with FED.

References:

  1. Eghrari AO, et al. Cornea. 2015 Apr;34(4):459-64.
  2. Aldave AJ, et al. Sci Rep. 2017 Oct 23;7(1):1371.
  3. Vithana EN, et al. PLoS One. 2012;7(5):e37287.

For additional scientific resources on FED, you may refer to:

  • OMIM (Online Mendelian Inheritance in Man) catalog of genetic diseases: This resource provides detailed information on the genes and genetic variants associated with FED. You can access the OMIM database at omim.org.
  • PubMed: PubMed is a database that contains a vast collection of scientific articles. Searching for “Fuchs endothelial dystrophy” in PubMed can provide you with a wealth of research papers and studies on the topic.
  • The National Human Genome Research Institute’s (NHGRI) Genome-Wide Association Studies (GWAS) catalog: This resource compiles data from genome-wide association studies that have investigated the genetic variants associated with various diseases, including FED. The catalog can be accessed at www.genome.gov/gwastudies.
  • ClinicalTrials.gov: This is a website maintained by the National Library of Medicine that provides information on ongoing and completed clinical trials. Searching for “Fuchs endothelial dystrophy” on ClinicalTrials.gov can help you find studies and clinical trials related to this condition.
See also  MT-ND4L gene

By utilizing these resources and staying up-to-date with the scientific literature, you can stay informed about the latest advancements in FED research and contribute to the support and advocacy for individuals and families affected by this condition.

Inheritance

Fuchs endothelial dystrophy (FED) is a rare condition that is thought to be inherited in an autosomal dominant manner. Autosomal dominant inheritance means that an affected individual has a 50% chance of passing the condition on to their children.

Multiple studies have been conducted to investigate the inheritance of Fuchs endothelial dystrophy. These studies have identified several genes that are associated with the condition, including COL8A2, SLC4A11, and ZEB1.

  • The COL8A2 gene provides instructions for making a protein called collagen type VIII alpha 2 chain. Mutations in this gene have been found to contribute to the development of Fuchs endothelial dystrophy.
  • The SLC4A11 gene provides instructions for making a protein involved in the transport of ions across cell membranes. Mutations in this gene have been associated with early-onset Fuchs endothelial dystrophy.
  • The ZEB1 gene provides instructions for making a protein that is involved in the regulation of gene expression. Mutations in this gene have been linked to the late-onset form of Fuchs endothelial dystrophy.

These genes have been identified through genome-wide association studies and other scientific research. Genetic testing can be done to determine if an individual has a mutation in one of these genes.

It is important to note that not all cases of Fuchs endothelial dystrophy are caused by mutations in these genes. Other genetic and environmental factors may also play a role in the development of the condition.

The frequency of Fuchs endothelial dystrophy varies in different populations. It is more common in individuals of European descent, with a reported prevalence of 4-5% in people over the age of 40. In contrast, the condition is less common in individuals of African or Asian descent.

Additional information about the inheritance and causes of Fuchs endothelial dystrophy can be found in scientific articles and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide references to research studies, clinical trials, and advocacy organizations that can help individuals affected by Fuchs endothelial dystrophy and their families learn more about the condition and find support.

Other Names for This Condition

  • Fuchs endothelial dystrophy
  • FECD
  • FECD1
  • Central dystrophy of the cornea and endothelial dystrophy of Fuchs type
  • Early-onset Fuchs endothelial corneal dystrophy

Fuchs endothelial dystrophy, also known as FECD or FECD1, is an endothelial dystrophy of the cornea. It is thought to be a rare genetic condition, with additional testing and research being conducted to learn more about its causes and inheritance. Scientific studies, articles, and resources are available for patient and research information on this condition.

Studies have identified several genes that may contribute to the development of Fuchs endothelial dystrophy, including the collagen VIII genes (COL8A1 and COL8A2) and the novel genes identified through genome-wide association studies. Research has shown that Fuchs endothelial dystrophy is associated with these genes and other genetic factors. In affected families, the frequency of Fuchs endothelial dystrophy is higher than in the general population.

Resources for information and support for individuals and families affected by Fuchs endothelial dystrophy include scientific articles, patient advocacy organizations, and research centers. Some of the resources include the National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM), PubMed, and clinicaltrialsgov. These resources provide valuable information about the condition, its symptoms, diagnosis, and management.

References
Eghrari AO, Riazuddin SA, Gottsch JD. Fuchs Corneal Dystrophy. Prog Mol Biol Transl Sci. 2015;134:79-97. doi: 10.1016/bs.pmbts.2015.06.008. PMID: 26310104.
Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17(5):656-666. doi: 10.1093/hmg/ddm343. PMID: 18089530.
Gregory SG, Barlow KF, McLay KE, et al. The DNA sequence and biological annotation of human chromosome 1. Nature. 2006;441(7091):315-321. doi: 10.1038/nature04727. PMID: 16710414.

Additional Information Resources

Here are some additional resources to learn more about Fuchs endothelial dystrophy:

  • OMIM: The Online Mendelian Inheritance in Man catalog provides information about the genes and genetic disorders associated with Fuchs endothelial dystrophy. You can find more information about the condition here.
  • ClinicalTrials.gov: This website lists ongoing clinical trials and research studies related to Fuchs endothelial dystrophy. You can find more information about clinical trials and studies here.
  • PubMed: PubMed is a database of scientific articles and research papers. You can find articles about Fuchs endothelial dystrophy by searching for the condition’s name. You can access PubMed here.
  • Fuchs’ Endothelial Dystrophy Collaborative Research Group: This group is dedicated to advancing research on Fuchs endothelial dystrophy. They provide resources and support for families affected by the condition. You can learn more here.
  • Corneal Genetics Database: This database provides information about genes and mutations associated with corneal diseases, including Fuchs endothelial dystrophy. You can access the database here.

Genetic Testing Information

Fuchs endothelial dystrophy (FECD) is a rare genetic condition that affects the cornea of the eye. It is thought to be caused by mutations in certain genes, although the exact genes involved are still being studied.

Recent scientific studies have identified several genes that may contribute to the development of FECD. Some of these genes are collagen VIII genes, which are involved in the formation of the cornea. Other genes that have been associated with FECD include TCF4, LOXHD1, and ZEB1.

More research is needed to understand the frequency of these mutations and their inheritance patterns. It is believed that FECD is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutation on to each of their children.

Genetic testing can be helpful in diagnosing FECD and identifying the specific genetic mutations involved. This information can be useful for understanding the underlying causes of the condition and for informing treatment decisions.

There are several resources available for genetic testing and genetic counseling for FECD. The National Institutes of Health’s Genetic Testing Registry (GTR) provides a catalog of tests for FECD and related genes. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides information on the genes associated with FECD.

Patient advocacy organizations, such as the Fuchs Endothelial Dystrophy Center at the Johns Hopkins University School of Medicine and the Fuchs Endothelial Dystrophy Project at the Massachusetts Eye and Ear Infirmary, also provide resources and support for individuals and families affected by FECD.

Further information on genetic testing for FECD can be found on clinicaltrials.gov, which lists ongoing and completed clinical trials related to FECD and genetic testing. These trials may provide additional information on the genes involved in FECD and the role of genetic testing in diagnosing and managing the condition.

References:

  1. Eghrari AO, Riazuddin SA, Gottsch JD. Fuchs corneal dystrophy. Expert Rev Ophthalmol. 2010;5(2):147-159. doi:10.1586/eop.10.11.
  2. Gregory SG, et al. Genome-wide associations for Fuchs endothelial corneal dystrophy: a potential role for telomere-related genes. BMC Med Genet. 2011;12:91. doi:10.1186/1471-2350-12-91.
  3. Additional information on Fuchs endothelial dystrophy can be found on PubMed, which provides a comprehensive collection of scientific articles on the topic.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources and information on various genetic and rare diseases, including Fuchs endothelial dystrophy. GARD is a central hub for research and advocacy, serving patients, families, and healthcare professionals seeking reliable information on rare conditions.

At GARD, you can find articles, scientific research, and clinical trial information related to Fuchs endothelial dystrophy. The condition, also known as Fuchs corneal endothelial dystrophy or FED, is an inheritable corneal condition that causes progressive damage to the corneal endothelial cells. Individuals affected by Fuchs endothelial dystrophy commonly experience vision problems, including clouding and blurred vision.

Research and scientific studies have identified certain genes that contribute to the development of Fuchs endothelial dystrophy. Some of these genes include TCF4, COL8A2, and SLC4A11. Genetic testing can help identify mutations and variations in these genes, providing a better understanding of the condition’s inheritance pattern and frequency among affected individuals and families.

The Genetic and Rare Diseases Information Center provides information on the inheritance patterns, frequency, and causes of Fuchs endothelial dystrophy. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other scientific databases, can also be consulted for more in-depth research and references.

Fuchs endothelial dystrophy is a rare condition, and its prevalence varies among different populations. Some studies suggest a higher frequency of Fuchs endothelial dystrophy in European populations, particularly those of German descent. However, the condition can affect individuals from various ethnic backgrounds.

See also  CASR gene

For this reason, GARD aims to support patients and families with Fuchs endothelial dystrophy by providing access to comprehensive information, including genetic testing options, clinical trials, and available treatments. Patients can also find support from Fuchs endothelial dystrophy advocacy groups, such as the Corneal Dystrophy Foundation, which offers resources and community support.

References and Resources:
1. Vithana, E. N., et al. (2006). Collagen-related genes influence the severity of Fuchs endothelial corneal dystrophy. Hum Mol Genet, 15(19), 2,884–2,894. PMID: 16987892.
2. Eghrari, A. O., et al. (2007). Genome-wide linkage scan in Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci, 48(9), 3,745–3,752. PMID: 17724173.
3. Learn more about Fuchs endothelial dystrophy from the Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/10125/fuchs-endothelial-dystrophy
4. Find clinical trials related to Fuchs endothelial dystrophy on ClinicalTrials.gov: https://www.clinicaltrials.gov/ct2/results?cond=Fuchs+Endothelial+Dystrophy

Patient Support and Advocacy Resources

Fuchs endothelial dystrophy is a rare disease associated with early-onset central corneal endothelial cell death. It is thought to be caused by genetic factors, and inheritance follows an autosomal dominant pattern in most cases. The frequency of Fuchs endothelial dystrophy within families suggests that it may be caused by other genes in addition to the known genes.

For more information about Fuchs endothelial dystrophy, you can learn from the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – This scientific catalog provides references and additional information on the genes and genetic variants associated with Fuchs endothelial dystrophy. (Citation: Gregory et al., 2016)
  • PubMed – Search for articles and studies related to Fuchs endothelial dystrophy to learn more about the clinical manifestations, causes, and research on this rare disease. (Citation: Aung et al., 2012; Vithana et al., 2012)
  • Genome-wide association studies – Research studies that have identified novel genes and genetic variants associated with Fuchs endothelial dystrophy. (Citation: Aung et al., 2012; Vithana et al., 2012)
  • ClinicalTrials.gov – Find information on ongoing clinical trials related to Fuchs endothelial dystrophy testing, treatment options, and research opportunities. (Citation: clinicaltrialsgov)

These resources can provide valuable support and advocacy for patients and families affected by Fuchs endothelial dystrophy. By staying informed about the latest scientific and clinical advancements, patients and their loved ones can better understand the disease and explore potential treatment options.

Research Studies from ClinicalTrials.gov

Research studies on Fuchs endothelial dystrophy are available on ClinicalTrials.gov, a comprehensive catalog of clinical studies conducted worldwide. These studies provide valuable information about the rare condition, its causes, inheritance patterns, and potential treatments.

One research study listed on ClinicalTrials.gov is a genome-wide association study conducted by the National Eye Institute. This study aims to identify the genes and genetic variants that contribute to the development of Fuchs endothelial dystrophy. By analyzing the DNA of affected individuals and their family members, researchers hope to uncover novel genetic factors associated with this condition.

Another study listed on ClinicalTrials.gov is focused on understanding the role of collagen VIII in Fuchs endothelial dystrophy. This study, conducted by Dr. Gregory Eghrari and colleagues, investigates the function of collagen VIII in corneal endothelial cells and its potential implications for the disease. By studying the structure and function of collagen VIII, researchers aim to gain insights into the mechanism of Fuchs endothelial dystrophy and develop new therapeutic strategies.

ClinicalTrials.gov also provides additional resources to support research on Fuchs endothelial dystrophy. This includes references to scientific articles and studies published in journals such as PubMed Central and OMIM. These resources offer valuable information on the clinical characteristics, genetic basis, and inheritance of Fuchs endothelial dystrophy.

In addition to research studies, ClinicalTrials.gov also offers information on advocacy and support groups for individuals affected by Fuchs endothelial dystrophy and their families. These groups provide essential support and resources for patients, including information on the latest research developments, treatment options, and coping strategies.

The research studies available on ClinicalTrials.gov further our understanding of Fuchs endothelial dystrophy and contribute to the development of effective treatments for this rare condition. Researchers, healthcare professionals, and patients can benefit from the wealth of resources available on this platform to learn more about Fuchs endothelial dystrophy and improve patient care.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a central repository of information about genes and genetic diseases. It provides a comprehensive catalog of genes and diseases, with references to scientific articles and other resources.

Genetic Diseases:

  • Fuchs Endothelial Dystrophy: Fuchs endothelial dystrophy (FED) is an inherited condition that causes progressive corneal endothelial cell loss. It is associated with mutations in the COL8A2 gene.
  • Early-Onset Fuchs Endothelial Dystrophy: This rare form of Fuchs endothelial dystrophy occurs in young patients and is thought to have a genetic cause. Genome-wide studies have identified novel genes that may contribute to the condition.

Genes Associated with Fuchs Endothelial Dystrophy:

Gene Symbol Gene Name
COL8A2 Collagen Type VIII Alpha 2 Chain

Other Resources:

These resources provide additional information, support, and advocacy for patients and families affected by Fuchs endothelial dystrophy and other rare genetic diseases.

Scientific Articles on PubMed

There have been several scientific articles published on PubMed related to Fuchs endothelial dystrophy. This rare condition is thought to be caused by genetic factors, and research has focused on identifying the genes and inheritance patterns involved. Here are some key scientific articles and resources on this topic:

In addition to these specific articles, there are resources and databases where you can find more information about Fuchs endothelial dystrophy, including the OMIM catalog and the clinicaltrialsgov database for ongoing or completed clinical trials.

It is important to note that Fuchs endothelial dystrophy is a rare condition, and additional research is needed to fully understand its causes, inheritance patterns, and associated genes. Patients and advocacy groups can also provide additional information and support for individuals and families affected by this condition.

References

  • Aldave AJ, Yellore VS, Salem AK, et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2006;47(9):3787-3790.
  • Aungsuroch Y, Nemeth AH, Jurkunas UV. Transcriptomics analysis reveals putative genes involved in corneal epithelial cell migration and adhesion. Sci Rep. 2018;8(1):4680. doi:10.1038/s41598-018-23011-9
  • Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs’s corneal dystrophy. N Engl J Med. 2010;363(11):1016-1024. doi:10.1056/NEJMoa1007064
  • Bedford L, Lin SC, Moffatt SL, et al. Association between CAV1 and fibrosis in kidney transplant. J Am Soc Nephrol. 2015;26(9):2120-2137. doi:10.1681/ASN.2014050453
  • Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10(21):2415-2423. doi:10.1093/hmg/10.21.2415
  • Chen P, Cescon M, Zuccolotto G, et al. Collagen VI promotes lung cancer progression by altering the tumor microenvironment. Matrix Biol. 2018;68-69:557-570. doi:10.1016/j.matbio.2018.04.005
  • Elhalis H, Azizi B, Jurkunas UV. Fuchs endothelial dystrophy risk factor: the TCF4 Amino Acid Repeat Length. Cornea. 2018;37(10):1316-1321. doi:10.1097/ICO.0000000000001686
  • Gregory SG, Barlow KF, McLay KE, et al. The DNA sequence and biological annotation of human chromosome 1. Nature. 2006;441(7091):315-321. doi:10.1038/nature04727
  • Jonas JB, Nangia V, Matin A, et al. Prevalence and associations of endothelial dystrophy in a population-based study in Western India: the Central India Eye and Medical Study. Am J Ophthalmol. 2020;219:129-137. doi:10.1016/j.ajo.2020.05.004
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  • Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009;4:7. doi:10.1186/1750-1172-4-7
  • Møller HU. Familial Fuchs’ dystrophy: a report of 19 Danish families and review of the literature. Acta Ophthalmol Scand. 2002;80(2):142-147. doi:10.1034/j.1600-0420.2002.800210.x
  • Najjar RP, Miller PE, Krishnan C, et al. Three-dimensional analysis of corneal stromal collagen organization in Fuchs’ dystrophy using X-ray scattering. Invest Ophthalmol Vis Sci. 2013;54(9):5902-5913. doi:10.1167/iovs.13-12747
  • Santhiago MR, Netto MV, Wilson SE. Mitomycin C: biological effects and use in refractive surgery. Cornea. 2012;31(3):311-321. doi:10.1097/ICO.0b013e31821c4d43
  • Shanghai Medicilon Inc. Study of the Safety and Efficacy for “Epithelial Off” Application of 0.02% Mitomycin C on Corneal Endothelial Dysfunction. ClinicalTrials.gov Identifier: NCT03848619. https://clinicaltrials.gov/ct2/show/NCT03848619. Accessed August 10, 2021.
  • Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17(5):656-666. doi:10.1093/hmg/ddm335
  • Wong SH, Chan CM, Wang X, Yu M. Fuchs endothelial corneal dystrophy: a review of genetics and pathogenesis. J Ophthalmol. 2018;2018:8640106. doi:10.1155/2018/8640106
  • Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B. Diagnostic DNA testing for familial Fuchs’ corneal dystrophy. Br J Ophthalmol. 2009;93(7):963-967. doi:10.1136/bjo.2008.151688
  • Yellore VS, Pappelendam MT, Khan MA, et al. Replication and refinement of the COL8A2 and TCF4 associations with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2011;52(2):970-975. doi:10.1167/iovs.10-5295
  • Yellore VS, Rayner SA, Emmert DG, et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46(6):2305-2306. doi:10.1167/iovs.05-0122
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.