[Genotype-phenotype correlation in patients with PRPH2-mutations].

doi:10.1055/s-0035-1545702

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Article

[Genotype-phenotype correlation in patients with PRPH2-mutations].

Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2015

Maertz J, Gloeckle N, Nentwich M M, Rudolph G

Abstract excerpt

BACKGROUND: The peripherin-2 (PRPH2) gene encodes a photoreceptor-specific transmembrane-protein called peripherin-2 which is critical for the formation and maintenance of rod and cone outer segments. Over 90 different disease-causing mutations in PRPH2 have been identified which cause a variety of forms of macular degeneration and also retinopathia pigmentosa. PATIENTS/MATERIAL AND METHODS: This study is a...

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