Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
+44 1223 790975
ISSN: 2155-9570
+44 1223 790975
Kent W Small
Founder of Macula & Retina Institute, USA
Keynote: J Clin Exp Ophthalmol
Purpose: We originally reported four mutations affecting PRDM13 in 11 families causing North Carolina Macular Dystrophy (NCMD/MCDR1). The purpose of this report is to present the analysis of an international cohort of an additional 10 families with NCMD. Methods: We performed Sanger DNA sequencing of the DNASE 1 hypersensitivity binding site up stream of PRDM13 (chr6:100040800-100040950) in the family members with NCMD. Results: Of the 10 new families studied with NCMD, six were found to have the same mutation as the original North Carolina family (Chr6: 100040906 G>T Het) and all families were in the USA. Four were found to have the "French mutation" (Chr6:100040987 G>C Het), three were European and one was American. Conclusion: Additional families with the NCMD phenotype continue to support that these mutations are causative of MCDR1/ NCMD.
Kent W Small is a board-certified Ophthalmologist with years of specialized training and over two decades of experience in retinal disorders, making him a leading expert in his field. He is a Professor and the Director of Macular Disease Center and Retinal Research Lab at the Jules Stein Eye Institute at UCLA.
Email: kentsmall@hotmail.com