Familial presence of early onset Fuchs' corneal endothelial dystrophy, a report of two rare cases.
نویسندگان
چکیده
A 15-year-old girl presented to our clinic with a history of gradual loss of vision and photosensitivity. She had bilateral corneal haze with stromal oedema. Her best-corrected visual acuity was 20/400 in the right eye and 20/200 in the left. She underwent penetrating keratoplasty in both eyes. Corneal histopathology revealed a pattern similar to Fuchs' endothelial dystrophy. The graft settled well and stayed clear while the vision kept improving. Her brother also presented with similar symptoms.
منابع مشابه
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.
PURPOSE To investigate the genetic basis of late-onset, familial Fuchs endothelial corneal dystrophy (FECD) through screening of the COL8A1 and COL8A2 genes, in which mutations have been associated with both early and late-onset, familial and sporadic FECD. METHODS DNA extraction, PCR amplification, and direct sequencing of the COL8A1 and COL8A2 genes was performed in affected and unaffected ...
متن کاملInheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
PURPOSE To characterize the genetic basis and phenotype of inherited Fuchs corneal dystrophy (FCD). METHODS DNA from blood was used for genome-wide linkage scans with tandem repeat polymorphisms. Mutation detection involved sequencing PCR-amplified exons. Families with FCD were clinically evaluated and graded on the Krachmer severity scale. Confocal specular microscopy visualized the morpholo...
متن کاملRetained Descemet’s membrane following penetrating keratoplasty for Fuchs’ endothelial dystrophy: a case report of a post-operative complication
PURPOSE To report a case of retained Descemet's membrane following penetrating keratoplasty in a patient suffering from Fuchs' endothelial corneal dystrophy. The use of confocal microscopy, histopathological tissue analysis, and treatment options are discussed. METHODS Case report of an 85-year-old man with a past ophthalmic history of atrophic macular degeneration, underwent a penetrating ke...
متن کاملComprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy
Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linke...
متن کاملAssociation of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study
PURPOSE Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intronic single nucleotide polymorphisms and intronic CTG repeat expansions in TCF4 gene to FECD in an I...
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ورودعنوان ژورنال:
- JPMA. The Journal of the Pakistan Medical Association
دوره 62 7 شماره
صفحات -
تاریخ انتشار 2012