North Carolina macular dystrophy

Term ID

DOID:0070439

Synonyms

• central areolar pigment epithelial dystrophy
• central retinal pigment epithelial dystrophy
• MCDR1
• NCMD
• progressive foveal dystrophy
• retinal macular dystrophy 1

Definition

A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. https://pubmed.ncbi.nlm.nih.gov/36243009

References

• GARD:9179
• MESH:C537835
• MIM:136550
• NCI:C168999
• ORDO:75327
• SNOMEDCT_US_2023_03_01:312925009
• UMLS_CUI:C0730294

Ontology

Human Disease   ( DOID:0070439 )