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Article

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.

Molecular vision - 1 Jan 2016

Bowne Sara J, Sullivan Lori S, Wheaton Dianna K, Locke Kirsten G, Jones Kaylie D, Koboldt Daniel C, Fulton Robert S, Wilson Richard K, Blanton Susan H, Birch David G, Daiger Stephen P

Abstract excerpt

PURPOSE: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). METHODS: A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or saliva from six affected family members and three unaffected spouses was collected and DNA tested for linkage to the...

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Topics

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Share to Chromosome Mapping
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genetic Linkage

Share to Histone-Lysine N-Methyltransferase

Share to Tandem Repeat Sequences

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 27777503
PMCID: PMC5070570

Genes

PRDM13
CCNC

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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North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.PMID 27777503Read ↗

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