| H00814 | |
| H番号 | H00814 |
| 名称 | 卵黄状黄斑ジストロフィー |
| 概要 | Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 years of age in most cases, whereas the onset of Adult-onset vitelliform macular dystrophy (AVMD) is between 30 and 50 years accompanied by slowly progressive visual loss. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878] (VMD3/ AVMD) PRPH2 [HSA:5961] [KO:K17343] (VMD4) IMPG1 [HSA:3617] [KO:K19016] (VMD5) IMPG2 [HSA:50939] [KO:K19017] |
| 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 MeSH: D057826 OMIM: 153840 153700 608161 616151 616152 611809 |
| 文献 | PMID:9662395 (BEST1) 著者 Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C タイトル Identification of the gene responsible for Best macular dystrophy. 雑誌 Nat Genet 19:241-7 (1998) DOI:10.1038/915 PMID:8485576 (PRPH2) 著者 Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. タイトル Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 雑誌 Nat Genet 3:213-8 (1993) DOI:10.1038/ng0393-213 PMID:23993198 (IMPG1) 著者 Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Senechal A, Hebrard M, Bocquet B, Ayuso Garcia C, Hamel CP タイトル Mutations in IMPG1 cause vitelliform macular dystrophies. 雑誌 Am J Hum Genet 93:571-8 (2013) DOI:10.1016/j.ajhg.2013.07.018 PMID:25085631 (IMPG2) 著者 Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP タイトル Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 雑誌 Ophthalmology 121:2406-14 (2014) DOI:10.1016/j.ophtha.2014.06.028 |