North Carolina macular dystrophy
Findings
No curated finding names North Carolina macular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.
Definition from the Mondo Disease Ontology (MONDO:0007630), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Macular dystrophyHPOHP:0007754
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- DyschromatopsiaHPOHP:0007641
- 0 of 75 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRDM13HGNC:13998
- Definitive · G2P · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Limited · Franklin by Genoox · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
9 names
Resolves to: North Carolina macular dystrophy
- Also called
- CAPE dystrophyCAPEDcentral areolar pigment epithelial dystrophycentral retinal pigment epithelial dystrophymacular dystrophy 1, North Carolina typeMCDR1NCMDNorth Carolina macular dystrophy, retinal 1progressive foveal dystrophy