RP1L1 and Inherited Photoreceptor Disease: A Review

Retinitis Pigmentosa 1-Like 1 (RP1L1) is a component of the photoreceptor cilium. Pathogenic variants in RP1L1 lead to photoreceptor disease, suggesting an important role for RP1L1 in photoreceptor biology, though its exact function is unknown. To date, RP1L1 variants have been associated with occult macular dystrophy (OMD, a cone degeneration) and retinitis pigmentosa (RP, a rod disease). Here, we summarize reported RP1L1-associated photoreceptor conditions and disease-causing RP1L1 variants. We also discuss novel associations between RP1L1 and additional photoreceptor conditions – beside OMD and RP – and fit RP1L1 into the broader scope of photoreceptor disease.
Source: Survey of Ophthalmology - Category: Opthalmology Authors: Tags: Major review Source Type: research