Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

@article{Bijveld2013GenotypeAP,
  title={Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.},
  author={Mieke M. C. Bijveld and Ralph J. Florijn and Arthur A. B. Bergen and L. Ingeborgh van den Born and Maarten Kamermans and Liesbeth J J M Prick and Frans C. C. Riemslag and Mary J van Schooneveld and Astrid M. L. Kappers and Maria M. van Genderen},
  journal={Ophthalmology},
  year={2013},
  volume={120 10},
  pages={2072-81}
}
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… CONTINUE READING
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