Variable expressivity of autosomal dominant microcornea with cataract
J. F. Salmon, C. E. Wallis and A. D. Murray
Department of Ophthalmology, University of Cape Town, Groote Schuur Hospital, South Africa.
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.
