Elucidating the Molecular Genetic Basis of the Corneal Dystrophies

Aldave, Anthony J.

doi:10.1001/archopht.125.2.177

Cited by 53 publications

(42 citation statements)

References 115 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…79 The two corneal dystrophies of the Bowman's layer RBCD and TBCD, associated with p.Arg124Leu and p.Arg555Gln mutations, respectively, are equally reported in various Asian and Western populations (Table 1). 80 LCD appears to be rare in the Russian population, with an estimated incidence of 1 in 92,000. 81 Our worldwide distribution analysis suggests that the spectrum of mutations in TGFBI-associated corneal dystrophies has doubled in the last 5 years.…”

Section: Worldwide Survey On the Reported In-cidents Of Tgfbi-assmentioning

confidence: 98%

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

et al. 2014

View full text Add to dashboard Cite

Section: Worldwide Survey On the Reported In-cidents Of Tgfbi-assmentioning

confidence: 98%

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

et al. 2014

View full text Add to dashboard Cite

“…However, we have reported that the two identified sequence variants do not appear to be associated with PPCD, leading to uncertainty regarding the role of the VSX1 gene in PPCD. 3,4 Gwilliam and colleagues 5 also reported linkage of PPCD to the chromosome 20 candidate interval in two large Czech families, narrowing the candidate gene region and excluding the VSX1 gene in the process. Their 2.7 cM critical interval defined by the markers D20S48 and D20S139 overlaps the interval to which the autosomal dominant form of congenital hereditary endothelial dystrophy (CHED 1, MIM 121700) has been mapped, leading to speculation that the two conditions may be caused by different mutations in the same gene.…”

mentioning

confidence: 99%

Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20

Yellore

Papp

Sobel

et al. 2007

Genetics in Medicine

Self Cite

View full text Add to dashboard Cite

Purpose: The study purpose was to identify the genetic basis of posterior polymorphous corneal dystrophy, an autosomal dominant disorder of the corneal endothelium that is associated with the development of corneal edema, necessitating corneal transplantation for visual rehabilitation. Glaucoma also develops in up to 40% of patients with posterior polymorphous corneal dystrophy. Methods: Linkage analysis, using microsatellite markers previously used to demonstrate linkage of posterior polymorphous corneal dystrophy to the chromosome 20 candidate region known as posterior polymorphous corneal dystrophy 1, was performed in 29 members of a family with posterior polymorphous corneal dystrophy. Thirty-four microsatellite markers were used to refine the posterior polymorphous corneal dystrophy 1 interval. TCF8, located on chromosome 10, was screened in an affected family member to exclude posterior polymorphous corneal dystrophy 3. Results: Significant evidence of linkage to the posterior polymorphous corneal dystrophy 1 interval was obtained with both single-point and multipoint analyses. The largest single-point log odds ratio score obtained was 4.38 ( ϭ 0) at marker D20S471; within 4.7 Mbp (7.2 cM) of D20S471 eight markers provided single-point log odds ratio scores of greater than 3.00 and three markers provided single-point log odds ratio scores greater than 4.00. The largest multipoint log odds ratio score obtained was 4.83, found across the adjacent markers D20S844, D20S191, D20S484, and D20S111. The support interval for posterior polymorphous corneal dystrophy 1 in the family we report is approximately 13.5 Mbp (10 cM) long and lies between the markers D20S182 and D20S195.Eleven markers have multipoint log odds ratio scores greater than 4.0 within this region. No coding region mutations were identified in TCF8 in an affected member of the family, effectively excluding posterior polymorphous corneal dystrophy 3. Conclusions: The originally described 19.8 cM posterior polymorphous corneal dystrophy 1 candidate disease interval has been refined to a 10 cM interval between markers D20S182 and D20S195. A portion of this refined interval overlaps a more recently reported posterior polymorphous corneal dystrophy 1 interval, with only 20 known and predicted genes mapped to the 2.4 cM common interval. Genet Med 2007:9(4):228-234.

show abstract

“…By convention corneal dystrophies are classified by characteristic clinical features and histopathology. But because many corneal dystrophies share similar clinical and histopathological findings, the classification system is presently changing towards a more genetic approach (Klintworth 2003;Vincent et al 2005;Pieramici & Afshari 2006 (Waring et al 1978), but other manifestations and other modes of inheritance have also been reported (Aldave & Sonmez 2007). A subgroup of anterior corneal dystrophies, RCE without other manifestations, was first described by Franceschetti (1928).…”

Section: Introductionmentioning

confidence: 99%

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

Hammar

Björck

Lind³

et al. 2009

Acta Ophthalmologica

View full text Add to dashboard Cite

ABSTRACT.Purpose: To describe the phenotype of an autosomal-dominant corneal dystrophy with an early onset of recurrent corneal erosions and development of subepithelial fibrosis in the cornea, and also to exclude genetic linkage to known corneal dystrophies with autosomal-dominant inheritance and clinical resemblance. Methods: We describe the medical history and clinical findings in individuals from a seven-generation family with recurrent corneal erosions. A total of 43 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and polymorphic microsatellite markers were analysed to study haplotypes surrounding genes causing corneal dystrophies with similar phenotypes. Results: Erosive symptoms usually lasted for between 1 and 10 days. By the age of 7 almost all of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity from the late 20s, but all examined individuals had developed subepithelial fibrosis by the age of 37. The fibrosis generally started in the mid periphery and was followed in some family members by central fibrosis and the development of gelatinous superficial elevations. Only a marginal reduction of visual acuity was seen in a few individuals. The affected individuals did not share haplotypes for genetic microsatellite markers surrounding genes that are known to cause autosomal-dominant corneal dystrophies. Conclusion: We describe a new type of autosomal-dominant corneal disorder with recurrent corneal erosions and subepithelial fibrosis not significantly affecting visual acuity.

show abstract

Elucidating the Molecular Genetic Basis of the Corneal Dystrophies

Cited by 53 publications

References 115 publications

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

Contact Info

Product

Resources

About