Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV

Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth.
Children with TRPM1-associated cCSNB presented before school age with progressive myopia as well as strabismus and nystagmus (but not nyctalopia), with stable, electronegative ffERG results, mildly subnormal full-field stimulus threshold testing results, and a constricted I2e isopter on perimetry. These findings suggest that ffERG and cCSNB genetic testing should be considered for children who present with early-onset myopia, especially in the presence of strabismus and/or nystagmus, and that TRPM1-associated cCSNB is a channelopathy that may present without complaints of night blindness in childhood.

JAMA Ophthalmology
Publication Date: 
Apr 1 2018
Pubmed ID: