| H00814 | |
| H number | H00814 |
| Name | Vitelliform macular dystrophy |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B70 ICD-10: H35.5 MeSH: D057826 OMIM: 153840 153700 608161 616151 616152 611809 |
| Reference | PMID:9662395 (BEST1) AUTHORS 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 TITLE Identification of the gene responsible for Best macular dystrophy. JOURNAL Nat Genet 19:241-7 (1998) DOI:10.1038/915 PMID:8485576 (PRPH2) AUTHORS Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. TITLE Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. JOURNAL Nat Genet 3:213-8 (1993) DOI:10.1038/ng0393-213 PMID:23993198 (IMPG1) AUTHORS 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 TITLE Mutations in IMPG1 cause vitelliform macular dystrophies. JOURNAL Am J Hum Genet 93:571-8 (2013) DOI:10.1016/j.ajhg.2013.07.018 PMID:25085631 (IMPG2) AUTHORS 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 TITLE Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. JOURNAL Ophthalmology 121:2406-14 (2014) DOI:10.1016/j.ophtha.2014.06.028 |