Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.

Abstract

Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant inherited macular disease caused by mutations in C1QTNF5 (CTRP5). While pathophysiological features vary, patients often present yellow-white punctate lesions and sub-RPE deposits. Multiple in silico, in vitro and in vivo studies have investigated the molecular mechanisms by which C1QTNF5 mutations lead to L-ORD. This review summarises key clinical findings and clinical management of L-ORD and focuses on what is known about the C1QNTF5 gene, protein structure and function, in health and disease.