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Article

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.

Molecular vision - 1 Jan 2014

Wawrocka Anna, Kohl Susanne, Baumann Britta, Walczak-Sztulpa Joanna, Wicher Katarzyna, Skorczyk-Werner Anna, Krawczynski Maciej R

Abstract excerpt

PURPOSE: To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. METHODS: In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field electroretinography (ERG), were performed in all patients (with the exception of patient p4, who had no ERG). Direct...

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Source

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Identifiers

PMID: 25558176
PMCID: PMC4279706

Genes

CNGB3
ERG
CNGA3
GNAT2

Variants

Provenance

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