Visual function and gene analysis in a family with Oguchi's disease

Ophthalmic Res. 1998;30(6):394-401. doi: 10.1159/000055501.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arrestin / genetics
  • Base Sequence
  • Electroretinography
  • Evoked Potentials, Visual / physiology
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / pathology
  • Eye Diseases, Hereditary / physiopathology*
  • Female
  • Fundus Oculi
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Pedigree
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / physiopathology
  • Rhodopsin / genetics
  • Vision, Ocular / physiology*


  • Arrestin
  • Rhodopsin