Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.

ABSTRACT:

Importance

Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. Pediatric clinical presentation and the course of different genetic subtypes of CSNB have not, to our knowledge, been well described in the era of molecular genetic diagnosis.

Objective

To describe the presentation and longitudinal clinical characteristics of pediatric patients with molecularly confirmed TRPM1-associated complete CSNB (cCSNB).

Design, setting, participants

This study was conducted at the University of Iowa from January 1, 1990, to July 1, 2015, and was a retrospective, longitudinal case series of 7 children (5 [71.4%] female) with TRPM1-associated cCSNB followed up for a mean (SD) of 11.1 (2.8) years.

Main ou

SUBMITTER: Miraldi Utz V 

PROVIDER: S-EPMC5876850 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature