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Article

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Genes - 15 Nov 2021

El Matri Khaled, Falfoul Yousra, Habibi Imen, Chebil Ahmed, Schorderet Daniel, El Matri Leila

Abstract excerpt

PURPOSE: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of CYP2U1 related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed with complete multimodal imaging including optical coherence tomography angiography (OCT-A). CASE PRESENTATION: A twelve-year-old boy from a non-consanguineous...

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Identifiers

PMID: 34828401
DOI: 10.3390/genes12111795
PMCID: PMC8618989

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