A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1

Jpn J Ophthalmol. 2002 May-Jun;46(3):336-40. doi: 10.1016/s0021-5155(02)00484-7.


Purpose: To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family.

Methods: Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.

Results: The proband and his sons had a heterozygous mutation of the OPA1 gene in the third nucleotide of intron 12 (IVS12+3A-->T). Clinically, each patient had reduced visual acuity (onset within the first 6 years of life) and optic nerve pallor. The proband showed bilateral central scotomas and generalized dyschroatopsia. This is the first report of OPA1 gene mutation in Japanese patients with familial optic atrophy.

Conclusions: A mutation of the OPA1 gene was detected in a Japanese family with OPA1, which follows the same pattern as reported in Western countries. It is suggested that mutations of the OPA1 gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients.

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Japan
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Optic Atrophy, Autosomal Dominant / diagnosis
  • Optic Atrophy, Autosomal Dominant / ethnology
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Vision Disorders / genetics
  • Visual Acuity


  • GTP Phosphohydrolases
  • OPA1 protein, human