TY - JOUR
T1 - Hereditary Fuch's dystrophy
AU - Rosenblum, P.
AU - Stark, W. J.
AU - Maumenee, I. H.
N1 - Funding Information:
We examined the subjects who came here for the presence and severity of Johns Hopkins Hospital, Baltimore, Maryland. This work was supported in partbygrants EYOI0302 (Dr. Stark), EY01773 (Dr. Irene Maumenee), and EY02476 (Dr. Hirst) from the National EyeInstitute.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 1980
Y1 - 1980
N2 - We studied 102 individuals from 25 families in which at least one member was known to have Fuch's 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 Fuch's 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-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. Fuch's 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.
AB - We studied 102 individuals from 25 families in which at least one member was known to have Fuch's 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 Fuch's 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-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. Fuch's 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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U2 - 10.1016/S0002-9394(14)75011-1
DO - 10.1016/S0002-9394(14)75011-1
M3 - Article
C2 - 6968504
AN - SCOPUS:0018909612
SN - 0002-9394
VL - 90
SP - 455
EP - 462
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 4
ER -