Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23715
Abstract: The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14–16.2 that overlaps the North Carolina macular dystrophy (NCMD) locus MCDR1. NCMD is a nonprogressive developmental macular dystrophy, in which… read more here.
Keywords: variants upstream; upstream prdm13; bifocal chorioretinal; chorioretinal atrophy ... See more keywords
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2038
Abstract: Leber congenital amaurosis (LCA) type 2, due to disease‐causing variants in RPE65, is characterized by severe visual loss in early infancy. Current treatments include voretigene neparvovec‐rzyl (VN) for RPE65‐associated LCA. Herein, we present the long‐term… read more here.
Keywords: atrophy following; chorioretinal atrophy; voretigene neparvovec; autofluorescence ... See more keywords
CHORIORETINAL ATROPHY IN VITREORETINAL LYMPHOMA
Sign Up to like & getrecommendations! Published in 2022 at "Retina"
DOI: 10.1097/iae.0000000000003352
Abstract: This study revealed the frequency, risk factors, and functional prognosis of chorioretinal atrophy associated with vitreoretinal lymphoma. Purpose: To investigate the frequency, risk factors, and functional prognosis of chorioretinal atrophy (CRA) in vitreoretinal lymphoma (VRL).… read more here.
Keywords: lymphoma; chorioretinal atrophy; vitreoretinal lymphoma; risk factors ... See more keywords
IDIOPATHIC MULTIFOCAL CHOROIDITIS WITH SERPIGINOUS-LIKE PERIPAPILLARY CHORIORETINAL ATROPHY
Sign Up to like & getrecommendations! Published in 2022 at "Retina"
DOI: 10.1097/iae.0000000000003481
Abstract: We describe nine atypical cases of multifocal choroiditis with serpiginous-like peripapillary chorioretinal atrophy. Purpose: To report nine cases of multifocal choroiditis with serpiginous-like peripapillary chorioretinal atrophy. Methods: A retrospective observational case series of eyes with… read more here.
Keywords: chorioretinal atrophy; choroiditis serpiginous; peripapillary chorioretinal; serpiginous like ... See more keywords
Factors associated with deep circulation in the peripapillary chorioretinal atrophy zone in normal‐tension glaucoma with myopic disc
Sign Up to like & getrecommendations! Published in 2018 at "Acta Ophthalmologica"
DOI: 10.1111/aos.13621
Abstract: To investigate factors associated with choroidal microcirculation in the peripapillary chorioretinal atrophy (PPA) zone in eyes with normal‐tension glaucoma (NTG) and myopic disc. read more here.
Keywords: tension glaucoma; factors associated; myopic disc; normal tension ... See more keywords