Information

Dear user, the application need JavaScript support. Please enable JavaScript in your browser.

Title of the item:

A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.

Title:
A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.
Authors:
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.
Source:
European journal of ophthalmology [Eur J Ophthalmol] 2022 Jan; Vol. 32 (1), pp. NP235-NP239. Date of Electronic Publication: 2020 Sep 14.
Publication Type:
Case Reports; Journal Article
Language:
English
Imprint Name(s):
Publication: 2018- : Thousand Oaks, CA : SAGE Publishing
Original Publication: Milano ; Birmingham, AL : Wichtig, c1991-
MeSH Terms:
Choroid*/pathology
Retinal Dystrophies*/genetics
Homeodomain Proteins/*genetics
Trans-Activators/*genetics
Atrophy/pathology ; Electroretinography ; Humans ; Male ; Middle Aged ; Mutation ; Tomography, Optical Coherence
References:
Optom Vis Sci. 2016 Oct;93(10):1315-1318. (PMID: 27668495)
Cell. 1997 Nov 14;91(4):531-41. (PMID: 9390562)
Am J Ophthalmol Case Rep. 2017 Sep 01;8:14-17. (PMID: 29260108)
J Neurosci. 2007 Jan 17;27(3):564-73. (PMID: 17234588)
Prog Retin Eye Res. 2018 Sep;66:157-186. (PMID: 29597005)
J Biol Chem. 2000 Nov 24;275(47):37264-70. (PMID: 10984472)
Exp Ther Med. 2014 Jun;7(6):1439-1445. (PMID: 24926324)
Arch Ophthalmol. 1986 Nov;104(11):1636-40. (PMID: 3778279)
Hum Mol Genet. 2005 Mar 15;14(6):747-64. (PMID: 15689355)
Graefes Arch Clin Exp Ophthalmol. 2019 Jan;257(1):9-22. (PMID: 30324420)
Invest Ophthalmol Vis Sci. 2014 Sep 30;55(10):6934-44. (PMID: 25270190)
Arch Ophthalmol. 2008 Oct;126(10):1461-3. (PMID: 18852430)
Grant Information:
R01 EY024091 United States EY NEI NIH HHS; R21 AG050437 United States AG NIA NIH HHS; R01 EY018213 United States EY NEI NIH HHS; U01 EY030580 United States EY NEI NIH HHS; U54 OD020351 United States OD NIH HHS; R01 EY009076 United States EY NEI NIH HHS; R01 EY026682 United States EY NEI NIH HHS; R24 EY027285 United States EY NEI NIH HHS; P30 CA013696 United States CA NCI NIH HHS; R24 EY028758 United States EY NEI NIH HHS; R01 EY028203 United States EY NEI NIH HHS; R01 EY024698 United States EY NEI NIH HHS; P30 EY019007 United States EY NEI NIH HHS
Contributed Indexing:
Keywords: CRX; Inherited retinal dystrophy; pigmented paravenous retinochoroidal atrophy; rod-cone dystrophy
Substance Nomenclature:
0 (Homeodomain Proteins)
0 (Trans-Activators)
0 (cone rod homeobox protein)
Entry Date(s):
Date Created: 20200915 Date Completed: 20220120 Latest Revision: 20220531
Update Code:
20240105
PubMed Central ID:
PMC9119417
DOI:
10.1177/1120672120957599
PMID:
32927963
Academic Journal
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.

We use cookies to help identify your computer so we can tailor your user experience, track shopping basket contents and remember where you are in the order process.