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Article

A novel MERTK mutation causing retinitis pigmentosa.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Aug 2017

Al-Khersan Hasenin, Shah Kaanan P, Jung Segun C, Rodriguez Alex, Madduri Ravi K, Grassi Michael A

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous inherited retinal dystrophy. To date, over 80 genes have been implicated in RP. However, the disease demonstrates significant locus and allelic heterogeneity not entirely captured by current testing platforms. The purpose of the present study was to characterize the underlying mutation in a patient with RP without a molecular diagnosis after...

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Source

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Identifiers

PMID: 28462455
DOI: 10.1007/s00417-017-3679-9
PMCID: PMC5542860

Genes

MERTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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