Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness – Corrected Proof
Objective: To investigate the relative frequency of the genetic causes of the Schubert–Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2.Design: Clinic-based, longitudinal, multicenter study.Participants: A total of 39 patients with CSNB1 from 29 families and 62 patients with CSNB2 from 43 families.Methods: Patients underwent full ophthalmologic and electrophysiologic examinations. On the basis of standard electroretinograms (ERGs), patients were diagnosed with CSNB1 or CSNB2. Molecular analysis was performed by direct Sanger sequencing of the entire coding regions in NYX, TRPM1, GRM6, and GPR179 in patients with CSNB1 and CACNA1F and CABP4 (Read more...)