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Title:
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A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.
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Authors:
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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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Source:
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European journal of ophthalmology [Eur J Ophthalmol] 2022 Jan; Vol. 32 (1), pp. NP235-NP239. Date of Electronic Publication: 2020 Sep 14.
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Publication Type:
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Case Reports; Journal Article
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Language:
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English
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Imprint Name(s):
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Publication: 2018- : Thousand Oaks, CA : SAGE Publishing
Original Publication: Milano ; Birmingham, AL : Wichtig, c1991-
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MeSH Terms:
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Choroid*/pathology
Retinal Dystrophies*/genetics
Homeodomain Proteins/*genetics
Trans-Activators/*genetics
Atrophy/pathology ; Electroretinography ; Humans ; Male ; Middle Aged ; Mutation ; Tomography, Optical Coherence
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References:
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Grant Information:
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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
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Contributed Indexing:
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Keywords: CRX; Inherited retinal dystrophy; pigmented paravenous retinochoroidal atrophy; rod-cone dystrophy
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Substance Nomenclature:
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0 (Homeodomain Proteins)
0 (Trans-Activators)
0 (cone rod homeobox protein)
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Entry Date(s):
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Date Created: 20200915 Date Completed: 20220120 Latest Revision: 20220531
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Update Code:
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20240105
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PubMed Central ID:
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PMC9119417
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DOI:
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10.1177/1120672120957599
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PMID:
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32927963
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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.