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Article

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Ophthalmic surgery, lasers & imaging retina - 1 Jan 2026

Woo Kwang Min, Babiker Fatima, Khalid Muhammad Ahmad R, Hwang Yunchan, Waheed Nadia K

Abstract excerpt

This report presents a novel heterozygous mutation in RP1L1 resulting in an asymptomatic retinitis pigmentosa (RP) phenotype. A 37-year-old woman with no visual complaints and 20/20 best-corrected visual acuity was incidentally found to have bilateral retinal pigment mottling and diffuse speckled hypoautofluorescence in both eyes. Ultra-high-resolution optical coherence tomography (OCT) showed intact outer...

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Source

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Identifiers

PMID: 41201214
DOI: 10.3928/23258160-20251020-01
PMCID: PMC13283356

Genes

RP1L1
ABCA4
GRM6
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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