Khalid Anwar

TL;DR: A second mutation (E48K) in connexin 50 is described that confirms the involvement of this gene in cataractogenesis and is reported in a British family with zonular pulverulent cataracts (CZP).

TL;DR: The phenotype of LCA in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset, and the ERG of a parent heterozygote carrier revealed significantly reduced rod function.

TL;DR: The results show, for the first time, that in three consanguineous Pakistani families suffering from autosomal recessive RP a form of arRP is caused by homozygous mutations of the RP1 gene.

TL;DR: A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and bilateral keratoconus was identified as discussed by the authors.

TL;DR: The first locus for isolated CMIC is mapped, in a five-generation consanguineous family with autosomal recessive inheritance, to chromosome 14q32, suggesting that arCMIC is caused by defects in a novel developmental gene that may be important or even essential in eye development.