VISUAL FUNCTION AND GENE ANALYSIS IN A FAMILY WITH OGUCHIS-DISEASE

A family with 1 case of retinitis pigmentosa (III-1) and 2 cases of Og uchi's disease (III-2, 3) was examined in terms of electrophysiology a s 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 unaffect ed members in the same family participated in this study. Corrected vi sual acuities of the individuals with Oguchi's disease (111-2, 3) were 1.2. On funduscopy, blood vessels stood out in relief against a metal lic-appearing background and a Mizuo-Nakamura phenomenon was evident. Full-field electroretinograms (ERGs) recorded from the proband were in dicative of rod dystrophy, but results of other electrophysiological e xaminations (multifocal ERG, pattern ERG and visual-evoked cortical po tential recordings) were within normal limits. Patient III-1 had corre cted visual acuities of RE 20 cm/m.m. and LE 30 cm/n.d., severe chorio retinal atrophy in both fundi, and full-field ERG revealed rod-cone dy strophy. Mutation of the arrestin gene (1147de1A) was detected in all 3 cases, but no mutation was observed for the rhodopsin gene. A homozy gous deletion 1147 (1147de1A) in codon 309 of the arrestin gene was co mmonly observed in all 3 patients. Visual function in each patient coi ncides with that of retinitis pigmentosa or Oguchi's disease, respecti vely.