A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital tationary night blindne

Purpoe To decribe a French family with the incomplete type of X-linked congenital tationary night blindne (CNB2) aociated with a novel mutation in the retina-pecific calcium channel α1 ubunit gene (CACNA1F). Deign Interventional cae report. Method Two family member with a hitory of nonprogreive night blindne and ubnormal viual acuity were clinically examined and the genotype determined by molecular genetic analyi. Reult Both patient had clinical manifetation characteritic of CNB2. Electrophyiologically, we found a predominant reduction of the ERG B-wave in the maximal repone. Both rod and cone function were ubnormal, with the latter tending to be more attenuated. We identified a C deletion at nucleotide poition 4548, reulting in a framehift with a predicted premature termination at codon 1524. Concluion The clinical and genetic tudy of a novel mutation in the CACNA1F gene add further upport to the contention that CNB2 repreent a genetically ditinct retinal diorder of a calcium channel.