" /> Late-Onset Retinal Degeneration - CISMeF





Preferred Label : Late-Onset Retinal Degeneration;

NCIt synonyms : LORD;

NCIt 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.;

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30/07/2025


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