[Skip to Content]
[Skip to Content Landing]
Article
January 1991

Autosomal Dominant Sectoral Retinitis PigmentosaTwo Families With Transversion Mutation in Codon 23 of Rhodopsin

Author Affiliations

From the Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles (Dr Heckenlively); and the Medical Genetics Center, The University of Texas Health Science Center, Houston (Mr Rodriguez and Dr Daiger).

Arch Ophthalmol. 1991;109(1):84-91. doi:10.1001/archopht.1991.01080010086038
Abstract

• A cytosine-to-adenine transversion in codon 23 of rhodopsin, the rod visual pigment gene, was reported recently by Dryja et al in 17 of 148 unrelated patients with autosomal dominant retinitis pigmentosa, but the clinical findings associated with this deletion have not been reported in detail. In screening our patients with autosomal dominant retinitis pigmentosa for the codon 23 transversion, we found positive results in four affected individuals from two families with sectoral retinitis pigmentosa, while 12 patients with sectoral retinitis pigmentosa from different families had negative results, suggesting that other gene sites or locations may give this same phenotypic change. From our patients' history of light exposure and the location of degeneration in the retina, we hypothesize that light phototoxicity may be playing an expressive role in this point mutation of the rhodopsin gene. This is the first report in which a type of retinitis pigmentosa has been associated with a specific molecular gene defect, although the actual pathophysiologic mechanism currently is unknown.

×