| H00973 | |
| H番号 | H00973 |
| 名称 | 遅視症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (PERRS1) RGS9 [HSA:8787] [KO:K13765] (PERRS2) RGS9BP [HSA:388531] [KO:K25405] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9D7Y ICD-10: H53.8 MeSH: C564243 OMIM: 608415 |
| 文献 | PMID:17826834 著者 Hartong DT, Pott JW, Kooijman AC タイトル Six patients with bradyopsia (slow vision): clinical features and course of the disease. 雑誌 Ophthalmology 114:2323-31 (2007) DOI:10.1016/j.ophtha.2007.04.057 PMID:14702087 (PERRS1 PERRS2) 著者 Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP タイトル Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. 雑誌 Nature 427:75-8 (2004) DOI:10.1038/nature02170 PMID:19818506 (PERRS1 PERRS2) 著者 Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR タイトル Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). 雑誌 Ophthalmology 117:120-127.e1 (2010) DOI:10.1016/j.ophtha.2009.06.011 |