| H01010 | |
| H number | H01010 |
| Name | Occult macular dystrophy |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | RP1L1 [HSA:94137] [KO:K19538] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B75.Y ICD-10: H35.5 OMIM: 613587 |
| Reference | PMID:20826268 AUTHORS 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 TITLE Dominant mutations in RP1L1 are responsible for occult macular dystrophy. JOURNAL Am J Hum Genet 87:424-9 (2010) DOI:10.1016/j.ajhg.2010.08.009 PMID:21555613 AUTHORS Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y TITLE Fundus autofluorescence in autosomal dominant occult macular dystrophy. JOURNAL Arch Ophthalmol 129:597-602 (2011) DOI:10.1001/archophthalmol.2011.96 |