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Article

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

Ophthalmology - 1 Oct 2013

Bijveld Mieke M C, Florijn Ralph J, Bergen Arthur A B, van den Born L Ingeborgh, Kamermans Maarten, Prick Liesbeth, Riemslag Frans C C, van Schooneveld Mary J, Kappers Astrid M L, van Genderen Maria M

Abstract excerpt

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...

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Source

Identifiers

PMID: 23714322
DOI: 10.1016/j.ophtha.2013.03.002

Genes

CABP4
GRM6
NYX
TRPM1
ERG

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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