Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

Background/aim: MERTK, a tyrosine kinase receptor protein expressed by the retinal pigment epithelium (RPE), is mutated in both rodent models and humans affected by retinal disease. This study reports a survey of families for Mertk mutations and describes the phenotype exhibited by one family. Metho...

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Veröffentlicht in:	British journal of ophthalmology 2006-06, Vol.90 (6), p.718-723
Hauptverfasser:	Tschernutter, M, Jenkins, S A, Waseem, N H, Saihan, Z, Holder, G E, Bird, A C, Bhattacharya, S S, Ali, R R, Webster, A R
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence ARRP autosomal recessive retinitis pigmentosa Base Sequence Biological and medical sciences c-Mer Tyrosine Kinase Child Clinical Science - Scientific Report DNA Mutational Analysis - methods electroretinograms Electroretinography ERGs Eye Proteins - genetics Female FFA fluorescein angiography Frameshift Mutation - genetics Genes Hardy-Rand-Rittler plates HRR plates Humans Macular degeneration Male Medical sciences Middle Aged Miscellaneous Molecular Sequence Data Mutation Mutation, Missense - genetics OCT Ophthalmology optical coherence tomography pattern ERGs PCR Pedigree PERG Phenotype polymerase chain reaction Polymerase Chain Reaction - methods Proto-Oncogene Proteins - genetics RCS Receptor Protein-Tyrosine Kinases - genetics Retina Retinal Degeneration - genetics Retinal Degeneration - physiopathology retinal pigment epithelium retinitis pigmentosa Royal College of Surgeons RPE Visual Acuity Visual Field Tests - methods Visual Fields
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