Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
ISSN: 2155-9570
Monika A Pradhan
New Zealand
Research Article
A Novel NYX Mutation Associated with X-Linked Congenital Stationary Night Blindness in a New Zealand Family
Author(s): Monika A Pradhan, Dianne M Sharp, Justin S Mora, Mariana Wittmer, Wolfgang Berger and Andrea L VincentMonika A Pradhan, Dianne M Sharp, Justin S Mora, Mariana Wittmer, Wolfgang Berger and Andrea L Vincent
Background: Complete Congenital Stationary Night Blindness (CSNB) type 1A is an X-linked condition associated with reduced scotopic vision, myopia, nystagmus and mutations in the NYX (nyctalopin) gene. This paper reports a novel mutation identified in this gene associated with X-linked CSNB in a New Zealand Caucasian family. Methods: A 16 year old male, presenting with night blindness, underwent detailed phenotypic assessment including pedigree construction and electrophysiology testing. Genetic analysis was performed in the Division of Medical Molecular Genetics, University of Zurich, Switzerland. Other family members also underwent clinical examination and genetic testing. Results: Electrodiagnostic testing has confirmed the diagnosis of Type 1 (complete) CSNB in the proband and his maternal grandfather by ide.. View More»
DOI:
10.4172/2155-9570.1000147