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Article

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Ophthalmology - 1 Jan 2016

Small Kent W, DeLuca Adam P, Whitmore S Scott, Rosenberg Thomas, Silva-Garcia Rosemary, Udar Nitin, Puech Bernard, Garcia Charles A, Rice Thomas A, Fishman Gerald A, Héon Elise, Folk James C, Streb Luan M, Haas Christine M, Wiley Luke A, Scheetz Todd E, Fingert John H, Mullins Robert F, Tucker Budd A, Stone Edwin M

Abstract excerpt

PURPOSE: To identify specific mutations causing North Carolina macular dystrophy (NCMD). DESIGN: Whole-genome sequencing coupled with reverse transcription polymerase chain reaction (RT-PCR) analysis of gene expression in human retinal cells. PARTICIPANTS: A total of 141 members of 12 families with NCMD and 261 unrelated control individuals. METHODS: Genome sequencing was performed on 8 affected individuals from...

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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: 26507665
DOI: 10.1016/j.ophtha.2015.10.006
PMCID: PMC4695238

Genes

PRDM13
IRX1
CCNC

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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North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.PMID 26507665Read ↗

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North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variantsSemantic proximity Read ↗

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CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13.Semantic proximity Read ↗

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