Journal article
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease
American journal of ophthalmology, Vol.154(6), pp.987-1001.e1
12/2012
DOI: 10.1016/j.ajo.2012.06.003
PMCID: PMC3498541
PMID: 22959359
Abstract
To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease. Prospective, observational case series. 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. 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. 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.
Details
- Title: Subtitle
- Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease
- Creators
- Pooja Godara - Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI, USARobert F Cooper - Marquette UniversityPanagiotis I SergouniotisMelissa A DiederichsMegan R StrebMohamed A GeneadJ Jason McAnanyAndrew R WebsterAnthony T MooreAdam M DubisMaureen NeitzAlfredo DubraEdwin M StoneGerald A FishmanDennis P HanMichel MichaelidesJoseph Carroll - Medical College of Wisconsin
- Resource Type
- Journal article
- Publication Details
- American journal of ophthalmology, Vol.154(6), pp.987-1001.e1
- DOI
- 10.1016/j.ajo.2012.06.003
- PMID
- 22959359
- PMCID
- PMC3498541
- NLM abbreviation
- Am J Ophthalmol
- ISSN
- 0002-9394
- eISSN
- 1879-1891
- Publisher
- United States
- Grant note
- R01EY017607 / NEI NIH HHS UL1 RR031973 / NCRR NIH HHS UL1RR031973 / NCRR NIH HHS P30EY001931 / NEI NIH HHS C06 RR-016511 / NCRR NIH HHS P30 EY001792 / NEI NIH HHS P30EY001730 / NEI NIH HHS T32EY014537 / NEI NIH HHS R00EY01951 / NEI NIH HHS C06 RR016511 / NCRR NIH HHS R01 EY009303 / NEI NIH HHS P30EY001792 / NEI NIH HHS R00 EY019510 / NEI NIH HHS T32 EY014537 / NEI NIH HHS P30 EY001931 / NEI NIH HHS R01 EY017607 / NEI NIH HHS P30 EY001730 / NEI NIH HHS
- Language
- English
- Date published
- 12/2012
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980396402771
Metrics
51 Record Views