Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness

Ophthalmic Genet. 2019 Apr;40(2):182-184. doi: 10.1080/13816810.2019.1605389.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Consanguinity
  • Electroretinography
  • Exons / genetics
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / physiopathology
  • Female
  • Follow-Up Studies
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Humans
  • Male
  • Mutation, Missense*
  • Myopia / diagnosis
  • Myopia / genetics*
  • Myopia / physiopathology
  • Night Blindness / diagnosis
  • Night Blindness / genetics*
  • Night Blindness / physiopathology
  • Pedigree
  • Receptors, Glutamate / genetics*
  • Retina / physiopathology

Substances

  • GRM6 protein, human
  • Receptors, Glutamate

Supplementary concepts

  • Night blindness, congenital stationary