| H00825 | |
| H number | H00825 |
| Name | Familial flecked retina syndrome |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B70 ICD-10: H35.5 OMIM: 126600 126700 136880 210370 |
| Reference | PMID:19373677 AUTHORS Walia S, Fishman GA, Kapur R TITLE Flecked-retina syndromes. JOURNAL Ophthalmic Genet 30:69-75 (2009) DOI:10.1080/13816810802654516 PMID:11913893 AUTHORS Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC TITLE Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). JOURNAL Eye (Lond) 16:7-15 (2002) DOI:10.1038/sj.eye.6700018 PMID:7952338 AUTHORS De Laey JJ TITLE Flecked retina disorders. JOURNAL Bull Soc Belge Ophtalmol 249:11-22 (1993) PMID:14767656 AUTHORS Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y TITLE A case of sectorial benign flecked retina. JOURNAL Jpn J Ophthalmol 48:72-4 (2004) DOI:10.1007/s10384-003-0002-6 |