| H01010 | |
| H番号 | H01010 |
| 名称 | オカルト黄斑ジストロフィー |
| 概要 | Occult macular dystrophy (OMD) is an inherited or sporadic macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field electroretinograms (ERGs), but the focal macular ERGs (FMERGs) and multifocal ERGs are abnormal. OMD is inherited as an autosomal dominant trait. However, patients with sporadic disease have been also reported. Mutations in RP1L1 gene, which plays essential roles in the cone functions, are responsible for OMD. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | RP1L1 [HSA:94137] [KO:K19538] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B75.Y ICD-10: H35.5 OMIM: 613587 |
| 文献 | PMID:20826268 著者 Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T タイトル Dominant mutations in RP1L1 are responsible for occult macular dystrophy. 雑誌 Am J Hum Genet 87:424-9 (2010) DOI:10.1016/j.ajhg.2010.08.009 PMID:21555613 著者 Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y タイトル Fundus autofluorescence in autosomal dominant occult macular dystrophy. 雑誌 Arch Ophthalmol 129:597-602 (2011) DOI:10.1001/archophthalmol.2011.96 |