A mutation in CRX causing pigmented paravenous retinochoroidal atrophy
| Autor: | Janet R. Sparrow, Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Winston Lee, Yan Nuzbrokh, Nan-Kai Wang, Rando Allikmets, Stephen H. Tsang |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty genetic structures Genetic heterogeneity Retinal dystrophy General Medicine Biology 03 medical and health sciences Ophthalmology 030104 developmental biology 0302 clinical medicine Mutation (genetic algorithm) 030221 ophthalmology & optometry medicine Rod-cone dystrophy Homeobox sense organs Pigmented paravenous retinochoroidal atrophy Gene |
| Zdroj: | European Journal of Ophthalmology. 32:NP235-NP239 |
| ISSN: | 1724-6016 1120-6721 |
| DOI: | 10.1177/1120672120957599 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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