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Article

RP1L1 and inherited photoreceptor disease: A review.

Survey of ophthalmology - 1 Jan 2000

Noel Nicole C L, MacDonald Ian M

Abstract excerpt

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 (a cone degeneration) and retinitis pigmentosa (a rod disease). Here, we summarize reported...

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PMID: 32360662
DOI: 10.1016/j.survophthal.2020.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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