Day 1 :
Keynote Forum
Kent W Small
Founder Macula & Retina Institute, USA
Keynote: North Carolina Macular Dystrophy: Mutations Found and New Clinical Findings
Time : 10:00
Biography:
Dr. 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, Dr. Small can diagnose and treat the full spectrum of retinal disorders, including diabetic retinopathy, macular degeneration, retinal detachments, retinal vascular disease and more. Throughout his career, Dr. Small has been involved in research and clinical trials backed by over $10 million in funding that will improve patient care for years to come. Dr. Small is also the published author of over 300 articles relating to all aspects of retinal disease. For over a decade, Dr. Small was both Professor and Director of the Macular Disease Center and Retinal Research lab at the Jules Stein Eye Institute at UCLA. He has taught nearly 100 ophthalmologists and optometrists. In addition, Dr. Small is a frequent guest lecturer and recognized expert both nationally and internationally. Finally, Dr. Small will treat you with the utmost concern and compassion you deserve every step of the way. Your appointments with him are unhurried and informative, and he will explain everything to you in simple, easy-to-understand language. It’s why Dr. Kent Small is trusted by nearly 300 Glendale and Los Angeles area ophthalmologists, optometrists and other medical specialists for their patients who need retinal care.
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
Keynote Forum
Kent W Small
Founder Macula & Retina Institute, USA
Keynote: North carolina macular dystrophy: mutations found and new clinical findings
Time : 10:00
Biography:
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.rnrn
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.rn