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...

Full description

Saved in:
Bibliographic Details
Main Authors: Khaled El Matri, Yousra Falfoul, Imen Habibi, Ahmed Chebil, Daniel Schorderet, Leila El Matri
Format: article
Language:EN
Published: MDPI AG 2021
Subjects:
<i>CYP2U1</i>
SPG56
macular telangiectasia
choroidal neovascularization
OCT-Angiography
multimodal imaging
Genetics
QH426-470
Online Access:https://doaj.org/article/0bc2795b48574cab87878fb68be396ee
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doaj.org/article/0bc2795b48574cab87878fb68be396ee

Similar Items