Assessing Retinal Structure In Complete Congenital Stationary Night Blindness and Oguchi Disease
| Autor: | Maureen Neitz, Edwin M. Stone, Andrew R. Webster, Alfredo Dubra, Pooja Godara, Gerald A. Fishman, Robert F. Cooper, Adam M. Dubis, J. Jason McAnany, Melissa A. Diederichs, Joseph Carroll, Megan R. Streb, Anthony T. Moore, Dennis P. Han, Mohamed A. Genead, Panagiotis I. Sergouniotis, Michel Michaelides |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Male
Retinal Ganglion Cells Visual acuity genetic structures Eye Diseases Vision G-Protein-Coupled Receptor Kinase 1 Visual Acuity Fundus (eye) Eye Ophthalmology & Optometry Polymerase Chain Reaction chemistry.chemical_compound Night Blindness Receptors Myopia Contrast (vision) Prospective Studies Tomography media_common medicine.diagnostic_test Oguchi disease Eye Diseases Hereditary Genetic Diseases X-Linked Middle Aged medicine.anatomical_structure Hereditary Receptors Glutamate Genetic Diseases Public Health and Health Services Female medicine.symptom Glutamate Tomography Optical Coherence Photoreceptor Cells Vertebrate Adult medicine.medical_specialty Retinal Bipolar Cells Adolescent media_common.quotation_subject Clinical Sciences Adaptation (eye) Dark Adaptation Biology Article Ophthalmoscopy Young Adult Opthalmology and Optometry Ophthalmology Ocular medicine Humans Photoreceptor Cells Eye Disease and Disorders of Vision Vision Ocular Retina Vertebrate Neurosciences Retinal X-Linked medicine.disease chemistry Optical Coherence Mutation sense organs |
| Zdroj: | American journal of ophthalmology, vol 154, iss 6 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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