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Article

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

JAMA ophthalmology - 1 Apr 2018

Miraldi Utz Virginia, Pfeifer Wanda, Longmuir Susannah Q, Olson Richard John, Wang Kai, Drack Arlene V

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29522070
DOI: 10.1001/jamaophthalmol.2018.0185
PMCID: PMC5876850

Genes

TRPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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