Referenced in: none

Automatically associated channels: Cav1.4

Title: A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

Authors: Felix Karl Jacobi, Christian P Hamel, Bernard Arnaud, Nikolaus Blin, Martina Broghammer, Philipp C Jacobi, Eckart Apfelstedt-Sylla, Carsten M Pusch

Journal, date & volume: Am. J. Ophthalmol., 2003 May , 135, 733-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12719097

Abstract
To describe a French family with the incomplete type of X-linked congenital stationary night blindness (CSNB2) associated with a novel mutation in the retina-specific calcium channel alpha(1) subunit gene (CACNA1F).Interventional case report.Two family members with a history of nonprogressive night blindness and subnormal visual acuity were clinically examined and the genotype determined by molecular genetic analysis.Both patients had clinical manifestations characteristic of CSNB2. Electrophysiologically, we found a predominant reduction of the ERG B-wave in the maximal response. Both rod and cone function were subnormal, with the latter tending to be more attenuated. We identified a C deletion at nucleotide position 4548, resulting in a frameshift with a predicted premature termination at codon 1524.The clinical and genetic study of a novel mutation in the CACNA1F gene adds further support to the contention that CSNB2 represents a genetically distinct retinal disorder of a calcium channel.