| H01009 | |
| H number | H01009 |
| Name | Newfoundland rod-cone dystrophy |
| Description | Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive progression. Mutations in RLBP1 gene, encoding the cellular retinaldehyde-binding protein, are likely to cause NFRCD. |
| Category | Nervous system disease |
| Network | - |
| Gene | RLBP1 [HSA:6017] [KO:K19625] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B70 MeSH: C564391 OMIM: 607476 |
| Reference | PMID:11868161 AUTHORS Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N TITLE Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. JOURNAL Am J Hum Genet 70:955-64 (2002) DOI:10.1086/339688 |