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

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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