Variable expressivity of autosomal dominant microcornea with cataract.
Autosomal dominant microcornea with a cataract, previously described in four families, was documented in a seven-generation family. Eighteen family members had microcornea and a cataract, and an additional six had sclerocornea or Peters' anomaly. Most individuals with microcornea had a corneal diameter of less than 11 mm in both meridians, with moderately steep corneal curvatures. The inherited cataract progressed to form a total cataract after visual maturity had been achieved. In the four affected children who had not undergone cataract extraction, the common abnormality was a posterior polar lens opacity. The variability of expressivity of the dominant gene would suggest that the embryological origins of microcornea and sclerocornea are similar.
Salmon
J F
JF
Department of Ophthalmology, University of Cape Town, Groote Schuur Hospital, South Africa.
Wallis
C E
CE
Murray
A D
AD
D000293:Adolescent; D000328:Adult; D000368:Aged; D000869:Anterior Eye Segment / Q000002:abnormalities; D002386:Cataract / Q000150:complications / Q000235:genetics*; D002387:Cataract Extraction; D002648:Child; D003315:Cornea / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D014785:Vision, Ocular