North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

• Published in: Investigative ophthalmology & visual science Vol. 62; no. 7; p. 16
• Main Authors: Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
• Format: Journal Article
• Language: English
• Published: The Association for Research in Vision and Ophthalmology 01.06.2021
• Subjects: Retina

North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. Here, we report clinical and genetic findings in three families segregating NCMD and use epigenomic datasets from human tissues to gain insights into the effect of NCMD-implicated vari...