{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T09:37:03Z","timestamp":1785317823056,"version":"3.55.0"},"reference-count":18,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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 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 CYP2U1 gene (c.1168C &gt; 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. CYP2U1 should be included in the panels of genes tested for macular dystrophies, especially in the presence of MacTel and\/or neurological manifestations.<\/jats:p>","DOI":"10.3390\/genes12111795","type":"journal-article","created":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T08:19:20Z","timestamp":1636964360000},"page":"1795","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7939-3251","authenticated-orcid":false,"given":"Khaled","family":"El Matri","sequence":"first","affiliation":[{"name":"Department B, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"Oculogenetic Laboratory LR14SP01, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"El Manar\/Facult\u00e9 de M\u00e9decine de Tunis, Universit\u00e9 de Tunis, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8922-2627","authenticated-orcid":false,"given":"Yousra","family":"Falfoul","sequence":"additional","affiliation":[{"name":"Department B, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"Oculogenetic Laboratory LR14SP01, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"El Manar\/Facult\u00e9 de M\u00e9decine de Tunis, Universit\u00e9 de Tunis, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imen","family":"Habibi","sequence":"additional","affiliation":[{"name":"IRO\u2014Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Chebil","sequence":"additional","affiliation":[{"name":"Department B, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"Oculogenetic Laboratory LR14SP01, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"El Manar\/Facult\u00e9 de M\u00e9decine de Tunis, Universit\u00e9 de Tunis, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1331-504X","authenticated-orcid":false,"given":"Daniel","family":"Schorderet","sequence":"additional","affiliation":[{"name":"IRO\u2014Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland"},{"name":"Facult\u00e9 de Biologie et de M\u00e9decine, Universit\u00e9 de Lausanne, 1005 Lausanne, Switzerland"},{"name":"Facult\u00e9 des Sciences de la Vie, \u00c9cole Polytechnique F\u00e9d\u00e9rale de Lausanne, 1015 Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"El Matri","sequence":"additional","affiliation":[{"name":"Department B, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"Oculogenetic Laboratory LR14SP01, Institut H\u00e9di Rais D\u2019ophtalmologie de Tunis, Tunis 1007, Tunisia"},{"name":"El Manar\/Facult\u00e9 de M\u00e9decine de Tunis, Universit\u00e9 de Tunis, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"6305","DOI":"10.1074\/jbc.M311830200","article-title":"CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids","volume":"279","author":"Chuang","year":"2004","journal-title":"J. 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