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 CYP2U1 related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed with complete multimodal imaging including o...

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Detalles Bibliográficos
Autores principales: El Matri, Khaled, Falfoul, Yousra, Habibi, Imen, Chebil, Ahmed, Schorderet, Daniel, El Matri, Leila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618989/
https://www.ncbi.nlm.nih.gov/pubmed/34828401
http://dx.doi.org/10.3390/genes12111795

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618989/
https://www.ncbi.nlm.nih.gov/pubmed/34828401
http://dx.doi.org/10.3390/genes12111795

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