Genetics of congenital cataract

Inherited cataracts make up a substantial fraction of the cataracts present at birth. Most inherited congenital cataracts are accounted for by mutations in genes encoding abundant cytoplasmic crystallins or membrane proteins of lens fiber cells. The remaining inherited congenital cataracts are due to mutations in a large and growing number of genes, especially those encoding transcription factors, intermediate filaments, and the protein degradation apparatus. Identification of these genes is providing insight into the processes required for normal lens development and suggesting candidates for genes that may contribute to inherited cataracts later in life.