A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations
J. Greenberg et al., A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations, S AFR MED J, 89(8), 1999, pp. 877-878
Hereditary retinal degenerations may be subdivided into those affecting pre
dominantly the central (macular) or peripheral regions of the retina. Retin
itis pigmentosa (RP) affects the photoreceptors; death of the rod cells is
followed by a progressive loss of cone cells, resulting in relatively early
loss of peripheral vision and progressive constriction of the visual field
s. A mutation in the gene encoding the photoreceptor protein, rhodopsin, wa
s the first molecular defect identified as a potential cause of inherited r
etinal degeneration (RD). In the study reported here, simple tests for rhod
opsin involvement in 194 southern African patients with a history of retina
l degeneration, including 14 black African patients, were performed. Two RP
patients were identified with disease-causing mutations in the rhodopsin g
ene: one from a black African family in which a codon 347 mutation resulted
in a Pro-Leu substitution, and one in a family of Caucasian origin where a
codon 58 alteration resulted in a Thr-Arg substitution. This is the first
report of a disease-causing rhodopsin mutation in an indigenous black Afric
an family with retinitis pigmentosa.