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Allen O. Eghrari, Elyse J. McGlumphy, S. A. Riazuddin, Nicholas Katsanis, John D. Gottsch; Prevalence and Severity of Fuchs Corneal Dystrophy on Tangier Island. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1100.
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Fuchs Corneal Dystrophy (FCD) is a progressive hereditary condition associated with corneal endothelial dysfunction and excrescences in Descemet membrane. The study was initiated to investigate the prevalence, genetics and clinical manifestations of late-onset FCD on Tangier, an island in the Chesapeake Bay with a population of approximately 535 individuals.
We recruited a total of 105 individuals born to inhabitants of Tangier Island. Medical history was ascertained prior to examination. All participants underwent anterior segment examination by an ophthalmologist using slit-lamp biomicroscopy. Positive affectation was defined as a minimum of one eye with more than 12 central guttae, representing grade 1 on the Krachmer scale. Blood samples were collected and DNA extracted using commercially available blood kits. Disease severity was compared with individuals from large families previously ascertained. Exclusion analyses of known late-onset FCD loci were completed with closely spaced short tandem repeat markers.
Of 105 individuals examined, 28 were affected with FCD (26.7%). Severity increased with age, with age-dependent mean Krachmer scores of 1.21 (30-49 years old), 2.17 (50 to 69 years old), and 2.47 (70 years or older). Only one individual progressed to transplantation. Severity was significantly decreased relative to 51 cases from unlinked families, in both the above-70 category (p<0.03) and the 30-to-49-year-old category (p<0.02). Genetic analysis showed no linkage to FCD3, a locus previously associated with a mild late-onset phenotype.
Our data suggest a high prevalence of late-onset FCD on Tangier Island with a mild phenotype that is independent of FCD3. This is the first cross-sectional study of Fuchs Corneal Dystrophy outside of a clinical setting in the United States, and suggests that this island population might be particularly useful in the epidemiological, clinical and genetic study of this common disorder of the aging population.
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