CABP4 Mutations Do Not Cause Congenital Stationary Night Blindness – Corrected Proof

I read with interest the analysis of Dutch patients diagnosed with congenital stationary night blindness (CSNB) by Bijveld et al, particularly what was written regarding patients with recessive mutations in calcium binding protein 4 (CABP4; Mendelian Inheritance in Man *608965). CABP4 encodes a protein that is specifically located in photoreceptor synaptic terminals, where it probably modulates photoreceptor calcium release. Only 3 of 101 patients diagnosed with CSNB in the authors' series had CABP4 mutations, and all 3 patients (2 families) harbored the same homozygous mutation (c.646C>T; p.Arg216X). These 3 patients had nystagmus and low vision. Two were photophobic. All 3 had (Read more...)

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