Document Detail


Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
MedLine Citation:
PMID:  22959359     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Pooja Godara; Robert F Cooper; Panagiotis I Sergouniotis; Melissa A Diederichs; Megan R Streb; Mohamed A Genead; J Jason McAnany; Andrew R Webster; Anthony T Moore; Adam M Dubis; Maureen Neitz; Alfredo Dubra; Edwin M Stone; Gerald A Fishman; Dennis P Han; Michel Michaelides; Joseph Carroll
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-09-07
Journal Detail:
Title:  American journal of ophthalmology     Volume:  154     ISSN:  1879-1891     ISO Abbreviation:  Am. J. Ophthalmol.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-15     Completed Date:  2013-01-30     Revised Date:  2013-12-05    
Medline Journal Info:
Nlm Unique ID:  0370500     Medline TA:  Am J Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  987-1001.e1     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Dark Adaptation / physiology
Eye Diseases, Hereditary / diagnosis*,  genetics
Female
G-Protein-Coupled Receptor Kinase 1 / genetics
Genetic Diseases, X-Linked / diagnosis*,  genetics
Humans
Male
Middle Aged
Mutation
Myopia / diagnosis*,  genetics
Night Blindness / diagnosis*,  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
Grant Support
ID/Acronym/Agency:
C06 RR-016511/RR/NCRR NIH HHS; C06 RR016511/RR/NCRR NIH HHS; P30 EY001730/EY/NEI NIH HHS; P30 EY001792/EY/NEI NIH HHS; P30 EY001931/EY/NEI NIH HHS; P30EY001730/EY/NEI NIH HHS; P30EY001792/EY/NEI NIH HHS; P30EY001931/EY/NEI NIH HHS; R00 EY019510/EY/NEI NIH HHS; R00EY01951/EY/NEI NIH HHS; R01 EY009303/EY/NEI NIH HHS; R01 EY017607/EY/NEI NIH HHS; R01EY017607/EY/NEI NIH HHS; T32 EY014537/EY/NEI NIH HHS; T32EY014537/EY/NEI NIH HHS; UL1 RR031973/RR/NCRR NIH HHS; UL1RR031973/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/GRM6 protein, human; 0/Receptors, Glutamate; EC 2.7.11.14/G-Protein-Coupled Receptor Kinase 1; EC 2.7.11.14/GRK1 protein, human
Comments/Corrections

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