Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

The article presents a case study of a 34-year-old female with a retinal dystrophy and with a peripheral choroidal melanoma. It mentions that fundoscopy and optical coherence tomography were consistent with a central macular caldera, and states the use of heterozygous single nucleotide within a DNase 1 hypersensitivity region adjacent to the PRDM13 gene. It also mentions the use of genome sequencing to identify a non-coding variant associated with a genetic eye disorder.