MERTK missense variants in three patients with retinitis pigmentosa.

ABSTRACT:

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 autofluorescence and optical coherence tomography imaging. Two patients also underwent Goldmann visual field testing and electroretinography was undertaken for the third patient. Molecular genetic testing was undertaken using next generation or whole-exome sequencing with all variants confirmed by Sanger sequencing.

Results

The first patient w

SUBMITTER: Poli FE 

PROVIDER: S-EPMC9615558 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature