Document Detail

Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
MedLine Citation:
PMID:  22959359     Owner:  NLM     Status:  MEDLINE    
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.
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
Related Documents :
11754139 - Effect of conformation on the chemiluminescence efficiency of light-producing 2-methyl-...
25375699 - Searching for topological defect dark matter via nongravitational signatures.
20223069 - Investigation of saturation and photobleaching of allophycocyanin by single-molecule re...
19325819 - Phosphorescent organic light-emitting devices: working principle and iridium based emit...
12201519 - Nondestructive measurement of light-induced oxidation in dairy products by fluorescence...
16228489 - Light-induced quenching of chlorophyll fluorescence at 77 k in leaves, chloroplasts and...
24324709 - Photic and pineal modulation of food anticipatory circadian activity rhythms in rodents.
25324099 - Delphinid behavioral responses to incidental mid-frequency active sonar.
5824639 - Visibility of aperiodic patterns compared with that of sinusoidal gratings.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Dark Adaptation / physiology
Eye Diseases, Hereditary / diagnosis*,  genetics
G-Protein-Coupled Receptor Kinase 1 / genetics
Genetic Diseases, X-Linked / diagnosis*,  genetics
Middle Aged
Myopia / diagnosis*,  genetics
Night Blindness / diagnosis*,  genetics
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
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
Reg. No./Substance:
0/GRM6 protein, human; 0/Receptors, Glutamate; EC Receptor Kinase 1; EC protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Parents as a resource: Communication quality affects the relationship between adolescents' internet ...
Next Document:  Building a Basis for Action: Enhancing Public Health Surveillance of Vision Impairment and Eye Healt...