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Article

MERTK missense variants in three patients with retinitis pigmentosa.

Ophthalmic genetics - 1 Feb 2023

Poli Federica E, Yusuf Imran H, Clouston Penny, Shanks Morag, Whitfield Jennifer, Charbel Issa Peter, MacLaren Robert E

Abstract excerpt

BACKGROUND: MERTK (MER proto-oncogene, tyrosine kinase) is a transmembrane protein essential in regulating photoreceptor outer segment phagocytosis. Biallelic mutations in MERTK cause retinal degeneration. Here we present the retinal phenotype of three patients with missense variants in MERTK. MATERIALS AND METHODS: All patients underwent a full clinical examination, fundus photography, short-wavelength fundus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

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Source

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Identifiers

PMID: 36036427
DOI: 10.1080/13816810.2022.2113541
PMCID: PMC9615558

Provenance

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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