IMPORTANCE Mutations in CNGA3 are the most common cause of achromatopsia and cone-rod dystrophies. OBJECTIVE To identify CNGA3 mutations in patients with cone dystrophies or Leber congenital amaurosis. DESIGN, SETTING, AND PARTICIPANTS Clinical data and genomic DNA in 267 Chinese probands from 138 families with cone dystrophies and 129 families with Leber congenital amaurosis collected at t...

The first event in light perception is absorption of a photon by an opsin pigment, which induces isomerization of its 11-cis-retinaldehyde chromophore. Restoration of light sensitivity to the bleached opsin requires chemical regeneration of 11-cis-retinaldehyde through an enzymatic pathway called the visual cycle. The isomerase, which converts an all-trans-retinyl ester to 11-cis-retinol, has n...

This paper is focused on disease Amaurosis Fugax (AF), indicating the necessary urgent therapy in attack of illnesses. In attack, the patient represents ophthalmic case, because of vision lost, but primary process and cause exists even earlier and very often is of chronical character. Authors emphasize sequencing in therapy of AF and accentuate that in 24 hours the cause of the disease may be d...

A form of autosomal dominant retinitis pigmentosa (ADRP) mapping to chromosome 17p has been reported in a single large South African family. We now report a new family with severe early onset ADRP which maps to 17p. Linkage and haplotype analysis in this family places the ADRP locus in the 5 cM interval between markers AFMc024za5 and D17S1845, confirming the data obtained in the South African f...