Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

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...

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Bibliographic Details
Published in:JAMA Ophthalmol
Main Authors: Miraldi Utz, Virginia, Pfeifer, Wanda, Longmuir, Susannah Q., Olson, Richard John, Wang, Kai, Drack, Arlene V.
Format: Artigo
Language:Inglês
Published: American Medical Association 2018
Subjects:
Original Investigation
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5876850/
https://ncbi.nlm.nih.gov/pubmed/29522070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2018.0185
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