A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-021-05376-w
Abstract: North Carolina macular dystrophy (NCMD) is a rare autosomal dominant inherited disorder characterized by macular impairment with a variety of phenotypic manifestations. The aims of this study were to assess the clinical features of a… read more here.
Keywords: carolina macular; chinese family; family; tandem duplication ... See more keywords
Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2019.100521
Abstract: Purpose To highlight the striking similarities between the lesions of congenital toxoplasmosis (CT) and North Carolina Macular Dystrophy (NCMD) using multimodal imaging including spectral domain optical coherence tomography (SD-OCT). Observations We are comparing a case… read more here.
Keywords: carolina macular; toxoplasmosis; north carolina; macular dystrophy ... See more keywords