• 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.
Fishman GA, Vandenburgh K, Stone EM, Gilbert LD, Alexander KR, Sheffield VC. Ocular Findings Associated With Rhodopsin Gene Codon 267 and Codon 190 Mutations in Dominant Retinitis Pigmentosa. Arch Ophthalmol. 1992;110(11):1582-1588. doi:10.1001/archopht.1992.01080230082026