C202070Level 8
Late-Onset Retinal Degeneration
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation in the C1QTNF5 gene, encoding complement C1q tumor necrosis factor-related protein 5. It is characterized by dark adaptation abnormalities, sub-retinal pigment epithelium lipid-rich material deposits, choroidal neovascularization, and chorioretinal atrophy. The typical onset is in the fifth or sixth decade of life.
**Synonyms:** - LORD
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