Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India
نویسندگان
چکیده
منابع مشابه
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India
BACKGROUND Mutations in COL8A2 gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD). Heterozygous mutations in the SLC4A11 gene are also known to cause late-onset FECD. Therefore we screened for COL8A2, SLC4A11 gene variants in Indian FECD patients. METHODS Eighty patients with clinically di...
متن کاملGenetic screen of African Americans with Fuchs endothelial corneal dystrophy
PURPOSE Fuchs endothelial corneal dystrophy (FECD) is a genetically heterogeneous disorder that has been primarily studied in patients of European or Asian ancestry. Given the sparse literature on African Americans with FECD, we sought to characterize the genetic variation in three known FECD candidate genes in African American patients with FECD. METHODS Over an 8-year period, we enrolled 47...
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PURPOSE To investigate whether apoptosis plays a notable role in degeneration of corneal endothelial cells in patients with Fuchs' dystrophy. METHODS Forty-seven corneal buttons from 41 patients with Fuchs' dystrophy were studied. Nucleus labeling, transmission electron microscopy (TEM), and TdT-dUTP terminal nick-end labeling (TUNEL) were used to detect apoptosis. TEM and TUNEL were performe...
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Fuchs endothelial corneal dystrophy (FECD) is characterized by pleomorphic, attenuated, dysfunctional, and degenerated corneal endothel ium together with progressive formation of corneal guttae. The condition may show familial clustering but is usually sporadic and predominantly affects women. Family based studies have mapped late onset FECD susceptibility to 13ptel-13q12.13 and 18q21.2-q21.32....
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The endothelial (posterior) corneal dystrophies, which result from primary endothelial dysfunction, include Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD) and congenital hereditary endothelial dystrophy (CHED). Mutations in SLC4A11 gene have been recently identified in patients with recessive CHED (CHED2). In this study, we show that heterozygous mut...
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ژورنال
عنوان ژورنال: BMC Ophthalmology
سال: 2010
ISSN: 1471-2415
DOI: 10.1186/1471-2415-10-3