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Tytuł pozycji:

A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.

Tytuł :
A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.
Autorzy :
Oh JK; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.; State University of New York at Downstate Medical Center, Brooklyn, NY, USA.
Nuzbrokh Y; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.; Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, USA.
Lee W; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
Lima de Carvalho JR Jr; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.; Department of Ophthalmology, Empresa Brasileira de Servicos Hospitalares - Hospital das Clinicas de Pernambuco, Federal University of Pernambuco, Recife, Pernambuco, Brazil.; Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.
Wang NK; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
Sparrow JR; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Allikmets R; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Tsang SH; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, NY, USA.; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
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Źródło :
European journal of ophthalmology [Eur J Ophthalmol] 2020 Sep 14, pp. 1120672120957599. Date of Electronic Publication: 2020 Sep 14.
Publication Model :
Ahead of Print
Typ publikacji :
Journal Article
Język :
English
Imprint Name(s) :
Publication: 2018- : Thousand Oaks, CA : SAGE Publishing
Original Publication: Milano ; Birmingham, AL : Wichtig, c1991-
Grant Information :
P30 EY019007 United States EY NEI NIH HHS; R01 EY028203 United States EY NEI NIH HHS
Contributed Indexing :
Keywords: CRX; Inherited retinal dystrophy; pigmented paravenous retinochoroidal atrophy; rod-cone dystrophy
Entry Date(s) :
Date Created: 20200915 Latest Revision: 20210426
Update Code :
20210426
DOI :
10.1177/1120672120957599
PMID :
32927963
Czasopismo naukowe
Introduction: Mutations in the cone-rod homeobox ( CRX ) gene, a known cause of inherited retinal dystrophy, are characterized by extensive phenotypic heterogeneity. We describe a novel presentation of rod-cone dystrophy (RCD) phenocopying pigmented paravenous retinochoroidal atrophy associated with a mutation in CRX .
Case Description: A 53-year-old man and his 48-year-old brother presented with a history of progressive vision loss and nyctalopia. Fundus examination revealed a bull's eye lesion with chorioretinal atrophy and intraretinal pigment migration, while spectral-domain optical coherence tomography (SD-OCT) demonstrated retinal thinning with outer retinal atrophy. On short-wavelength autofluorescence (SW-AF) imaging, an atypical paravenous pattern of atrophy with a surrounding hyperautofluorescent border was observed. Full-field electroretinogram (ffERG) revealed a rod-cone pattern of dysfunction. A heterozygous pathogenic variant, c.119G>A:p.(Arg40Gln), in the CRX gene was identified in both brothers and segregated in their family.
Conclusion: This case report broadens the currently known phenotypic presentations of CRX -associated retinopathy and suggests that mutations in CRX may be associated with pigmented paravenous retinochoroidal atrophy.

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