Kent W Small
Founder Macula & Retina Institute, USA
Title: North Carolina Macular Dystrophy: Mutations Found and New Clinical Findings
Biography
Biography: Kent W Small
Abstract
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.rnrnMethods: 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.rnrnResults: 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.rnrnConclusion: Additional families with the NCMD phenotype continue to support that these mutations are causative of MCDR1/NCMD.rnrnBiography:rnrnKent 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. Using the very latest methods, he can diagnose and treat the full spectrum of retinal disorders, including diabetic retinopathy, macular degeneration, retinal detachments, retinal vascular disease and more. He is both Professor and Director of Macular Disease Center and Retinal Research lab at the Jules Stein Eye Institute at UCLA.rn rn