Oguchi type I caused by a homozygous missense variation in the SAG gene

Eur J Med Genet. 2019 Sep;62(9):103548. doi: 10.1016/j.ejmg.2018.09.015. Epub 2018 Sep 27.

Abstract

Oguchi disease, is a very rare form of night blindness caused by biallelic variations in the SAG or GRK1 genes, both involved in rod restoration after light stimuli. Here we report the clinical and genetic findings of an 8-year old boy with a history of reduced visual acuity, nyctalpia and hemeralopia. Clinical findings, in particular the Mizuo-Nakamura phenomenon, were compatible with a diagnosis of Oguchi disease. Genetic testing revealed a novel missense homozygous variation in the SAG gene. This is the first evidence that the disease can be caused by missense variations in this gene.

Keywords: Night blindness; Novel mutation; Oguchi disease; SAG.

Publication types

  • Case Reports

MeSH terms

  • Calcium-Binding Proteins / chemistry
  • Calcium-Binding Proteins / genetics*
  • Child
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / pathology
  • Homozygote
  • Humans
  • Male
  • Mutation, Missense*
  • Night Blindness / genetics*
  • Night Blindness / pathology
  • Tumor Suppressor Proteins / chemistry
  • Tumor Suppressor Proteins / genetics*

Substances

  • Calcium-Binding Proteins
  • DMBT1 protein, human
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins

Supplementary concepts

  • Oguchi disease