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  • Title: Hereditary Fuchs' Dystrophy.
    Author: Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE.
    Journal: Am J Ophthalmol; 1980 Oct; 90(4):455-62. PubMed ID: 6968504.
    Abstract:
    We studied 102 individuals from 25 families in which at least one member was known to have Fuchs' endothelial dystrophy. We used slit-lamp examination, corneal pachymetry, and specular microscopy. We also examined pathology records which contained 79 cases of penetrating keratoplasties done solely for phakic Fuchs' dystrophy between 1940 and 1978. Although there was a marked predominance of females in our review of pathology records, our clinical study provided a more even sex distribution. There was a close correlation between the number of expected and observed affected first-degree relatives based on an autosomal-dominant mode of inheritance. We observed a fairly typical corneal pattern, beginning as a circumscribed area of central or paracentral cornea guttata, and thereafter expanding more horizontally than vertically with progression of severity. Fuchs' dystrophy appears to be a true corneal dystrophy with autosomal-dominant inheritance, a high degree of penetrance, and variable expressivity, with generally increased severity among females.
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