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How to master MCQs
Published in Chung Nen Chua, Li Wern Voon, Siddhartha Goel, Ophthalmology Fact Fixer, 2017
All the conditions mentioned are dominantly inherited and give rise to severe central visual loss. Stargardt's disease, North Carolina macular dystrophy and Best's disease usually reduce the vision significantly before the age of 20. Sorby's macular dystrophy causes significant visual loss in the 20s to 40s. Patients with central areolar choroidal dystrophy do not usually have significant visual loss until the 50s.
Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)
Published in Ophthalmic Genetics, 2021
Kent W. Small, Lee M. Jampol, Benjamin Bakall, Leslie Small, Robert Wiggins, Steven Agemy, Nitin Udar, Jessica Avetisjan, Andrea Vincent, Fadi S. Shaya
North Carolina Macular Dystrophy (NCMD/MCDR1, OMIM 136,550) is a congenital/developmental autosomal dominant macular dystrophy characterized by a great phenotypic variability, even within the same family and therefore, also with the same pathogenic variant (1–9). About a third of the affected family members are asymptomatic with only drusen and good best-corrected visual acuity (BCVA) (20/20-20/25); grade 1. A third have grade 2, which consists of confluent drusen and sometimes a focal submacular fibrosis/vitelliform lesion with or without a choroidal neovascularization (CNVM). The BCVA in these can range from 20/25 to 20/200 depending on the amount and location of the fibrosis/CNVM. A third have the most severe appearing grade 3 coloboma—like defect in the central macula with typically surprisingly good BCVA ranging from 20/20 to 20/200, median 20/40. Coloboma-like is the most accurate descriptor because the lesion is a congenital/developmental defect but not due to a lack of fetal fissure closure and therefore, not in the typical inferonasal quadrant (10). These lesions have been confused with congenital toxoplasmosis in isolated individuals (11,12). Because of this tremendous phenotypic variability, an isolated patient presenting to an eyecare physician can present significant diagnostic confusion. This is especially true if the other family members are not available for examination.