Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease

Am J Ophthalmol. 2012 Dec;154(6):987-1001.e1. doi: 10.1016/j.ajo.2012.06.003. Epub 2012 Sep 7.


Purpose: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease.

Design: Prospective, observational case series.

Methods: We recruited 3 patients with complete congenital stationary night blindness caused by mutations in GRM6, 2 brothers with Oguchi disease caused by mutations in GRK1, and 1 normal control. Retinal thickness was measured from optical coherence tomography images. Integrity of the rod and cone mosaic was assessed using adaptive optics scanning light ophthalmoscopy. We imaged 5 of the patients after a period of dark adaptation and examined layer reflectivity on optical coherence tomography in a patient with Oguchi disease under light- and dark-adapted conditions.

Results: Retinal thickness was reduced in the parafoveal region in patients with GRM6 mutations as a result of decreased thickness of the inner retinal layers. All patients had normal photoreceptor density at all locations analyzed. On removal from dark adaptation, the intensity of the rods (but not cones) in the patients with Oguchi disease gradually and significantly increased. In 1 Oguchi disease patient, the outer segment layer contrast on optical coherence tomography was 4-fold higher under dark-adapted versus light-adapted conditions.

Conclusions: The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina. Our finding that rods, but not cones, change intensity after dark adaptation suggests that fundus changes in Oguchi disease are the result of changes within the rods as opposed to changes at a different retinal locus.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Dark Adaptation / physiology
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics
  • Female
  • G-Protein-Coupled Receptor Kinase 1 / genetics
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myopia / diagnosis*
  • Myopia / genetics
  • Night Blindness / diagnosis*
  • Night Blindness / genetics
  • Ophthalmoscopy
  • Photoreceptor Cells, Vertebrate / pathology*
  • Polymerase Chain Reaction
  • Prospective Studies
  • Receptors, Glutamate / genetics
  • Retinal Bipolar Cells / pathology*
  • Retinal Ganglion Cells / pathology*
  • Tomography, Optical Coherence
  • Vision, Ocular
  • Visual Acuity / physiology
  • Young Adult


  • GRM6 protein, human
  • Receptors, Glutamate
  • G-Protein-Coupled Receptor Kinase 1
  • GRK1 protein, human

Supplementary concepts

  • Night blindness, congenital stationary
  • Oguchi disease