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Article

Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.

Ophthalmology - 1 Dec 1991

Richards J E, Kuo C Y, Boehnke M, Sieving P A

Abstract excerpt

The authors report a family in which a Thr58Arg rhodopsin mutation co-segregates with the disease phenotype of autosomal dominant retinitis pigmentosa (RP) in 16 family members. DNA sequence determination confirms the presence of the same mutation reported previously for one family apparently unrelated to the pedigree now reported. Features of RP in this family included a later onset of symptoms, with night...

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PMID: 1775313
DOI: 10.1016/s0161-6420(91)32047-5

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