Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases

xloma.fota13 shared this article with you from Inoreader Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases Via Journal of Neuro-Ophthalmology - Published Ahead-of-Print Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. In this article, we report 2 patients carrying known pathogenic variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal dysembryogenesis. Address correspondence to Giacomo M. Bacci, MD, PhD, Pediatric Ophthalmology Unit, Children's Hospital A. Meyer-University of Florence, Viale Pieraccini 24, Florence 50139, Italy; E-mail: giacomo.bacci@meyer.it The authors report no conflicts of interest. © 2020 by North American Neuro-Ophthalmology Society View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.