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

Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of <i>CYP2U1</i> related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed with complete multimodal...

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Autores principales:	Khaled El Matri, Yousra Falfoul, Imen Habibi, Ahmed Chebil, Daniel Schorderet, Leila El Matri
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>CYP2U1</i> SPG56 macular telangiectasia choroidal neovascularization OCT-Angiography multimodal imaging Genetics QH426-470
Acceso en línea:	https://doaj.org/article/0bc2795b48574cab87878fb68be396ee
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Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography

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