Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

doi:10.1016/j.ajhg.2012.10.023

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Article

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

American journal of human genetics - 10 Jan 2013

Zeitz Christina, Jacobson Samuel G, Hamel Christian P, Bujakowska Kinga, Neuillé Marion, Orhan Elise, Zanlonghi Xavier, Lancelot Marie-Elise, Michiels Christelle, Schwartz Sharon B, Bocquet Béatrice, Antonio Aline, Audier Claire, Letexier Mélanie, Saraiva Jean-Paul, Luu Tien D, Sennlaub Florian, Nguyen Hoan, Poch Olivier, Dollfus Hélène, Lecompte Odile, Kohl Susanne, Sahel José-Alain, Bhattacharya Shomi S, Audo Isabelle

Abstract excerpt

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and incomplete CSNB. Individuals with cCSNB have visual impairment under low-light conditions and show a characteristic electroretinogram (ERG). The b-wave amplitude is severely reduced in the dark-adapted state of the ERG, representing...

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Identifiers

PMID: 23246293
DOI: 10.1016/j.ajhg.2012.10.023
PMCID: PMC3542465

Genes

ERG
GRM6
NYX
TRPM1

Variants

Provenance

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