Recessive Congenital Total Cataract with Microcornea and Heterozygote Carrier Signs Caused by a Novel Missense CRYAA Mutation (R54C)

R54C is the second reported recessive CRYAA mutation associated with congenital cataract and the first with described morphology: punctuate lenticular opacities in carriers and congenital total white cataract with microcornea in homozygotes. The microcornea may have been caused by an inductive effect on the developing cornea from the abnormal lens and/or reduced CRYAA molecular chaperoning of the cornea.