| H00973 | |
| H number | H00973 |
| Name | Bradyopsia |
| Description | Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing moving objects. Visual acuity is normal to moderately reduced in the affected individuals. Recessive mutations have been reported in the genes encoding RGS9 and R9AP that have a critical role in the recovery phase of visual transduction. |
| Category | Nervous system disease |
| Network | - |
| Gene | (PERRS1) RGS9 [HSA:8787] [KO:K13765] (PERRS2) RGS9BP [HSA:388531] [KO:K25405] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9D7Y ICD-10: H53.8 MeSH: C564243 OMIM: 608415 |
| Reference | PMID:17826834 AUTHORS Hartong DT, Pott JW, Kooijman AC TITLE Six patients with bradyopsia (slow vision): clinical features and course of the disease. JOURNAL Ophthalmology 114:2323-31 (2007) DOI:10.1016/j.ophtha.2007.04.057 PMID:14702087 (PERRS1 PERRS2) AUTHORS Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP TITLE Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. JOURNAL Nature 427:75-8 (2004) DOI:10.1038/nature02170 PMID:19818506 (PERRS1 PERRS2) AUTHORS Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR TITLE Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). JOURNAL Ophthalmology 117:120-127.e1 (2010) DOI:10.1016/j.ophtha.2009.06.011 |