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Article

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Ophthalmology. Retina - 1 Sept 2024

Katta Mohamed, de Guimaraes Thales A C, Fujinami-Yokokawa Yu, Fujinami Kaoru, Georgiou Michalis, Mahroo Omar A, Webster Andrew R, Michaelides Michel

Abstract excerpt

OBJECTIVE: To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure. DESIGN: Retrospective, longitudinal, single-center case series. PARTICIPANTS: One hundred twenty-two patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom. METHODS:...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38522615
DOI: 10.1016/j.oret.2024.03.017
PMCID: PMC11752838

Genes

CABP4
CACNA1F
NYX
TRPM1
GPR179
GRM6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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