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Article

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

European journal of ophthalmology - 1 Jan 2000

Ksantini Mohamed, Lafont Estèle, Bocquet Béatrice, Meunier Isabelle, Hamel Christian P

Abstract excerpt

PURPOSE: Gene identification in retinitis pigmentosa is a prerequisite to future therapies. Accordingly, autosomal recessive retinitis pigmentosa families were genotyped to search for causative mutations. METHODS: Members of a consanguineous Moroccan family had standard ophthalmologic examination, optical coherence tomography-3 scan, autofluorescence testing, and electroretinogram. Their DNA was genotyped with...

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Source

Identifiers

PMID: 22180149
DOI: 10.5301/ejo.5000096

Genes

MERTK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.PMID 22180149Read ↗

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MERTK missense variants in three patients with retinitis pigmentosa.Semantic proximity Read ↗

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene.Semantic proximity Read ↗

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.Semantic proximity Read ↗

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.Semantic proximity Read ↗

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.Semantic proximity Read ↗

A novel MERTK mutation causing retinitis pigmentosa.Semantic proximity Read ↗

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.Semantic proximity Read ↗

A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.Semantic proximity Read ↗

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.Semantic proximity Read ↗

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

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