Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. Am J Ophthalmol 2012 Dec;154(6):987-1001.e1
Date
09/11/2012Pubmed ID
22959359Pubmed Central ID
PMC3498541DOI
10.1016/j.ajo.2012.06.003Scopus ID
2-s2.0-84869083300 (requires institutional sign-in at Scopus site) 55 CitationsAbstract
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.
Author List
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll JAuthors
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinRobert F. Cooper Ph.D Assistant Professor in the Biomedical Engineering department at Marquette University
MESH terms used to index this publication - Major topics in bold
AdolescentAdult
Dark Adaptation
Eye Diseases, Hereditary
Female
G-Protein-Coupled Receptor Kinase 1
Genetic Diseases, X-Linked
Humans
Male
Middle Aged
Mutation
Myopia
Night Blindness
Ophthalmoscopy
Photoreceptor Cells, Vertebrate
Polymerase Chain Reaction
Prospective Studies
Receptors, Glutamate
Retinal Bipolar Cells
Retinal Ganglion Cells
Tomography, Optical Coherence
Vision, Ocular
Visual Acuity
Young Adult
