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Gerald A. Fishman, MD; Kimberlie Vandenburgh; Edwin M. Stone, MD, PhD; Leonardo D. Gilbert, COT; Kenneth R. Alexander, PhD; Val C. Sheffield, MD, PhD

Arch Ophthalmol. 1992;110(11):1582-1588.

Abstract
• Two members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine mutation in the second nucleotide of codon 267 in the rhodopsin gene that resulted in a proline-to-leucine change. Two members of another family with autosomal dominant retinitis pigmentosa showed a guanine-to-thymine mutation in the first nucleotide of codon 190 in the rhodopsin gene that resulted in an aspartate-to-tyrosine change. Three members from a third family with autosomal dominant retinitis pigmentosa were also found to have a mutation in codon 190; however, this guanine-toadenine mutation in the first nucleotide of codon 190 resulted in an aspartate-toasparagine change. The relatively less severe functional retinal impairment in our patients with a transmembrane codon 267 rhodopsin gene mutation is generally comparable with that observed in a previously described codon 58 transmembrane mutation. The two families with different intradiscal codon 190 mutations showed a considerable difference in severity of their disease.

Author Affiliations
From the Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago (Drs Fishman and Alexander and Mr Gilbert); and the Departments of Ophthalmology (Ms Vandenburgh and Dr Stone) and Pediatrics (Dr Sheffield), University of Iowa, Iowa City.

Footnotes
Accepted for publication July 15, 1992.

Reprint requests to Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, 1855 W Taylor St, Chicago, IL 60612 (Dr Fishman).

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