Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5.

Late-Onset Retinal Degeneration (L-ORD) is a rare autosomal dominant macular disease, with most cases being caused by a founder mutation in C1QTNF5. Initial symptoms, which generally occur during or after the sixth decade, include abnormal dark adaptation and changes in peripheral vision. Over time, the build-up of sub-retinal pigment epithelium (RPE) deposits leads to macular atrophy and bilateral central vision loss.