North Carolina Macular Dystrophy: A Developmental Maculopathy

North Carolina Macular Dystrophy (NCMD) is a rare autosomal dominant disorder characterised by congenital macular abnormalities. It was first described in a large cohort of patients from North Carolina, USA in the 1970s. Despite its name, NCMD has been reported globally, with considerable phenotypic variability, ranging from subtle drusen-like deposits to severe coloboma-like macular lesions. The condition is linked to non-coding variants upstream of the PRDM13 gene on chromosome 6. This variant leads to disruption of retinal development and gene expression. Early diagnosis is important to inform genetic counselling and monitoring for secondary complications, e.g. choroidal neovascularisation.