Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene.
Four members in a Japanese family had autosomal dominant retinitis pigmentosa caused by a single point mutation in codon 347 of the rhodopsin gene. The youngest, an 11-year-old girl, had an abnormal electroretinographic response, although her fundus appeared normal. The other affected family members noticed night blindness in the second decade. Their fundi showed diffuse pigmentation with concentric visual field loss, and there was no recordable electroretinographic response. Cataract developed in the fourth decade in the older patients. Good visual acuity was retained however, even in the fifth decade, after cataract extraction. These clinical features were similar to those of American patients (European family origin) with the same mutation of the rhodopsin gene reported previously.
Shiono
T
T
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
Hotta
Y
Y
Noro
M
M
Sakuma
T
T
Tamai
M
M
Hayakawa
M
M
Hashimoto
T
T
Fujiki
K
K
Kanai
A
A
Nakajima
A
A
D000328:Adult; D000368:Aged; D002386:Cataract / Q000235:genetics; D002648:Child; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007564:Japan; D008297:Male; D016297:Mutagenesis, Site-Directed; D009755:Night Blindness / Q000235:genetics; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D014794:Visual Fields
D003062:Codon; D004247:DNA; D012243:Rhodopsin