Retinitis pigmentosa 7- MedGen UID:
- 334168
- •Concept ID:
- C1842475
- •
- Disease or Syndrome
A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported.
Late-onset retinal degeneration- MedGen UID:
- 344198
- •Concept ID:
- C1854065
- •
- Disease or Syndrome
Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).