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

Clin Exp Ophthalmol. 2017 Apr;45(3):297-299. doi: 10.1111/ceo.12825. Epub 2016 Sep 21.

Authors

Jamie M Ellingford^{1

2}, Panagiotis I Sergouniotis^{1

2

3}, Emma Jenkins¹, Graeme C Black^{1

2}

Affiliations

¹ Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
² Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
³ Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

PMID: 27551809
DOI: 10.1111/ceo.12825

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Chromosome Mapping*
Corneal Dystrophies, Hereditary / diagnosis
Corneal Dystrophies, Hereditary / genetics*
Eye Proteins / genetics*
Female
Genetic Linkage
Genetic Variation*
Genome, Human / genetics*
Humans
Middle Aged
RNA, Untranslated / genetics*
Sequence Analysis, DNA
Tomography, Optical Coherence
Visual Acuity / physiology

Substances

Eye Proteins
MCDR1 protein, human
RNA, Untranslated

Supplementary concepts

Macular dystrophy, retinal, 1, North Carolina type