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Article

NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.

Ophthalmic genetics - 1 Oct 2021

Scanga H L, Liasis A, Pihlblad M S, Nischal K K

Abstract excerpt

Background: Congenital Stationary Night Blindness (CSNB) is a clinically and genetically heterogenous inherited retinal disorder associated with nystagmus, myopia, strabismus, defective dark adaptation, and decreased vision. Pathogenic variants in at least 17 genes have been associated with CSNB, where a hemizygous variant of NYX causing an X-linked form of the disorder is among the commonest causes.Materials and...

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Share to Electroretinography
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34165036
DOI: 10.1080/13816810.2021.1941129

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