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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spelling	oai:doaj.org-article:0bc2795b48574cab87878fb68be396ee2021-11-25T17:42:04ZMacular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography10.3390/genes121117952073-4425https://doaj.org/article/0bc2795b48574cab87878fb68be396ee2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1795https://doaj.org/toc/2073-4425Purpose: 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 imaging including optical coherence tomography angiography (OCT-A). Case presentation: A twelve-year-old boy from a non-consanguineous family complained of bilateral progressive visual loss and photophobia. The best-corrected visual acuity was 2/10 on the right eye and 3/10 on the left eye. Fundus examination showed central pigmented fibrotic macular scar and yellowish punctuate deposits in both eyes. En face OCT-A detected typical macular telangiectasia (MacTel) in both eyes with dilated telangiectatic capillaries in the deep capillary plexus associated with vascular anomalies in the superficial and deep capillary plexus. Typical hypo-reflective cavities were observed within the inner foveal layers on structural OCT. En face OCT-A also confirmed the presence of bilateral inactive CNV within the fibrotic scars, showing high-flow vascular network at the level of the subretinal hyperreflective lesions. Whole exome sequencing identified a known homozygous pathogenic variant in <i>CYP2U1</i> gene (c.1168C > T, p.Arg390*), which is a disease-causing mutation in autosomal recessive spastic paraplegia type 56 (SPG56). The neurological examination was normal, and electromyography and brain magnetic resonance imaging were unremarkable as well. Conclusion: Macular dystrophy can be the first manifestation in SPG56. A particular phenotype with MacTel was observed, and neovascular complications are possible. <i>CYP2U1</i> should be included in the panels of genes tested for macular dystrophies, especially in the presence of MacTel and/or neurological manifestations.Khaled El MatriYousra FalfoulImen HabibiAhmed ChebilDaniel SchorderetLeila El MatriMDPI AGarticle<i>CYP2U1</i>SPG56macular telangiectasiachoroidal neovascularizationOCT-Angiographymultimodal imagingGeneticsQH426-470ENGenes, Vol 12, Iss 1795, p 1795 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>CYP2U1</i> SPG56 macular telangiectasia choroidal neovascularization OCT-Angiography multimodal imaging Genetics QH426-470
spellingShingle	<i>CYP2U1</i> SPG56 macular telangiectasia choroidal neovascularization OCT-Angiography multimodal imaging Genetics QH426-470 Khaled El Matri Yousra Falfoul Imen Habibi Ahmed Chebil Daniel Schorderet Leila El Matri Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
description	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 imaging including optical coherence tomography angiography (OCT-A). Case presentation: A twelve-year-old boy from a non-consanguineous family complained of bilateral progressive visual loss and photophobia. The best-corrected visual acuity was 2/10 on the right eye and 3/10 on the left eye. Fundus examination showed central pigmented fibrotic macular scar and yellowish punctuate deposits in both eyes. En face OCT-A detected typical macular telangiectasia (MacTel) in both eyes with dilated telangiectatic capillaries in the deep capillary plexus associated with vascular anomalies in the superficial and deep capillary plexus. Typical hypo-reflective cavities were observed within the inner foveal layers on structural OCT. En face OCT-A also confirmed the presence of bilateral inactive CNV within the fibrotic scars, showing high-flow vascular network at the level of the subretinal hyperreflective lesions. Whole exome sequencing identified a known homozygous pathogenic variant in <i>CYP2U1</i> gene (c.1168C > T, p.Arg390*), which is a disease-causing mutation in autosomal recessive spastic paraplegia type 56 (SPG56). The neurological examination was normal, and electromyography and brain magnetic resonance imaging were unremarkable as well. Conclusion: Macular dystrophy can be the first manifestation in SPG56. A particular phenotype with MacTel was observed, and neovascular complications are possible. <i>CYP2U1</i> should be included in the panels of genes tested for macular dystrophies, especially in the presence of MacTel and/or neurological manifestations.
format	article
author	Khaled El Matri Yousra Falfoul Imen Habibi Ahmed Chebil Daniel Schorderet Leila El Matri
author_facet	Khaled El Matri Yousra Falfoul Imen Habibi Ahmed Chebil Daniel Schorderet Leila El Matri
author_sort	Khaled El Matri
title	Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
title_short	Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
title_full	Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
title_fullStr	Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
title_full_unstemmed	Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
title_sort	macular dystrophy with bilateral macular telangiectasia related to the cyp2u1 pathogenic variant assessed with multimodal imaging including oct-angiography
publisher	MDPI AG
publishDate	2021
url	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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