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Article

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.

Investigative ophthalmology & visual science - 1 Jun 2021

Green David J, Lenassi Eva, Manning Cerys S, McGaughey David, Sharma Vinod, Black Graeme C, Ellingford Jamie M, Sergouniotis Panagiotis I

Abstract excerpt

Purpose: North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. Here, we report clinical and genetic findings in three families segregating NCMD and use epigenomic datasets from human tissues to gain insights into the effect of NCMD-implicated variants. Methods: Clinical assessment and genetic testing were performed. Publicly available transcriptomic...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone-Lysine N-Methyltransferase

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Source

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Identifiers

PMID: 34125159
DOI: 10.1167/iovs.62.7.16
PMCID: PMC8212441

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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