Visual function and gene analysis in a family with Oguchi's disease.
A family with 1 case of retinitis pigmentosa (III-1) and 2 cases of Oguchi's disease (III-2, 3) was examined in terms of electrophysiology as well as molecular biology. The proband (III-3), a 42-year-old female, and 2 older brothers (III-1, 2, aged 52 and 45 years) and 2 unaffected members in the same family participated in this study. Corrected visual acuities of the individuals with Oguchi's disease (III-2, 3) were 1.2. On funduscopy, blood vessels stood out in relief against a metallic-appearing background and a Mizuo-Nakamura phenomenon was evident. Full-field electroretinograms (ERGs) recorded from the proband were indicative of rod dystrophy, but results of other electrophysiological examinations (multifocal ERG, pattern ERG and visual-evoked cortical potential recordings) were within normal limits. Patient III-1 had corrected visual acuities of RE 20 cm/m.m. and LE 30 cm/n.d., severe chorioretinal atrophy in both fundi, and full-field ERG revealed rod-cone dystrophy. Mutation of the arrestin gene (1147de1A) was detected in all 3 patients. Visual function in each patient coincides with that of retinitis pigmentosa or Oguchi's disease, respectively.
Yoshii
M
M
Department of Ophthalmology, National Defense Medical College, Tokorozawa, Japan.
Murakami
A
A
Akeo
K
K
Nakamura
A
A
Shimoyama
M
M
Ikeda
Y
Y
Kikuchi
Y
Y
Okisaka
S
S
Yanashima
K
K
Oguchi
Y
Y
D000328:Adult; D019393:Arrestin / Q000235:genetics; D001483:Base Sequence; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics; D014785:Vision, Ocular / Q000502:physiology*
D019393:Arrestin; D012243:Rhodopsin