| H00825 | |
| H番号 | H00825 |
| 名称 | 家族性斑点網膜症 |
| 概要 | The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal laminar drusen (BLD) are included in familial drusen. However, there are far more diseases with fleck-like deposits in the retina, including primary hereditary ocular diseases such as retinitis punctata albescens (RPA) or Bietti's crystalline dystrophy (BCD), neuro-ophthalmologic syndromes such as Kjellin's syndrome, and secondary retinal flecks due to metabolic disorders. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (DHRD) EFEMP1 [HSA:2202] [KO:K18262] (BLD) CFH [HSA:3075] [KO:K04004] (FA) RDH5 [HSA:5959] [KO:K00061] (RPA) RLBP1 [HSA:6017] [KO:K19625] (RPA) RHO [HSA:6010] [KO:K04250] (BCD) CYP4V2 [HSA:285440] [KO:K07427] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B70 ICD-10: H35.5 OMIM: 126600 126700 136880 210370 |
| 文献 | PMID:19373677 著者 Walia S, Fishman GA, Kapur R タイトル Flecked-retina syndromes. 雑誌 Ophthalmic Genet 30:69-75 (2009) DOI:10.1080/13816810802654516 PMID:11913893 著者 Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC タイトル Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). 雑誌 Eye (Lond) 16:7-15 (2002) DOI:10.1038/sj.eye.6700018 PMID:7952338 著者 De Laey JJ タイトル Flecked retina disorders. 雑誌 Bull Soc Belge Ophtalmol 249:11-22 (1993) PMID:14767656 著者 Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y タイトル A case of sectorial benign flecked retina. 雑誌 Jpn J Ophthalmol 48:72-4 (2004) DOI:10.1007/s10384-003-0002-6 |