Characterization of SSBP1-related optic atrophy and foveopathy

Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutiniz...

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Autores principales:	Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/8fa606812b804c0a99225be600404957
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spelling	oai:doaj.org-article:8fa606812b804c0a99225be6004049572021-12-02T15:15:23ZCharacterization of SSBP1-related optic atrophy and foveopathy10.1038/s41598-021-98150-12045-2322https://doaj.org/article/8fa606812b804c0a99225be6004049572021-09-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-98150-1https://doaj.org/toc/2045-2322Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutinized using 20° × 20° macular cube and 30° and 55° field fundus autofluorescence photographs. Age of onset, visual acuity, retinal nerve fiber layer and macular thicknesses were recorded. Three SSBP1-patients were asymptomatic, 10 had isolated DOA, and 12 had a combined DOA plus foveopathy. The foveopathy, with a tiny defect of the ellipsoid and interdigitation lines, was similar in all patients, independent of age. There were no significant statistical differences in terms of visual acuity and SD-OCT measurements between patients with isolated DOA (mean visual acuity in decimals: 0.54 ± 0.41) and those with combined foveopathy (0.50 ± 0.23). Two patients over 50 years of age developed a progressive rod-cone dystrophy, leading to severe visual impairment. SSBP1-related DOA shares similarities with OPA1-related DOA with an incomplete penetrance and an early childhood visual impairment. Nevertheless, the presence of a congenital foveopathy with no impact on visual acuity is a major criterion to distinguish SSBP1 cases and orient the appropriate genetic analysis.Isabelle MeunierBéatrice BocquetSabine Defoort-DhellemmesVasily SmirnovCarl ArndtMarie Christine PicotHélène DollfusMajida CharifIsabelle AudoHélèna HuguetXavier ZanlonghiGuy LenaersNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Isabelle Meunier Béatrice Bocquet Sabine Defoort-Dhellemmes Vasily Smirnov Carl Arndt Marie Christine Picot Hélène Dollfus Majida Charif Isabelle Audo Hélèna Huguet Xavier Zanlonghi Guy Lenaers Characterization of SSBP1-related optic atrophy and foveopathy
description	Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutinized using 20° × 20° macular cube and 30° and 55° field fundus autofluorescence photographs. Age of onset, visual acuity, retinal nerve fiber layer and macular thicknesses were recorded. Three SSBP1-patients were asymptomatic, 10 had isolated DOA, and 12 had a combined DOA plus foveopathy. The foveopathy, with a tiny defect of the ellipsoid and interdigitation lines, was similar in all patients, independent of age. There were no significant statistical differences in terms of visual acuity and SD-OCT measurements between patients with isolated DOA (mean visual acuity in decimals: 0.54 ± 0.41) and those with combined foveopathy (0.50 ± 0.23). Two patients over 50 years of age developed a progressive rod-cone dystrophy, leading to severe visual impairment. SSBP1-related DOA shares similarities with OPA1-related DOA with an incomplete penetrance and an early childhood visual impairment. Nevertheless, the presence of a congenital foveopathy with no impact on visual acuity is a major criterion to distinguish SSBP1 cases and orient the appropriate genetic analysis.
format	article
author	Isabelle Meunier Béatrice Bocquet Sabine Defoort-Dhellemmes Vasily Smirnov Carl Arndt Marie Christine Picot Hélène Dollfus Majida Charif Isabelle Audo Hélèna Huguet Xavier Zanlonghi Guy Lenaers
author_facet	Isabelle Meunier Béatrice Bocquet Sabine Defoort-Dhellemmes Vasily Smirnov Carl Arndt Marie Christine Picot Hélène Dollfus Majida Charif Isabelle Audo Hélèna Huguet Xavier Zanlonghi Guy Lenaers
author_sort	Isabelle Meunier
title	Characterization of SSBP1-related optic atrophy and foveopathy
title_short	Characterization of SSBP1-related optic atrophy and foveopathy
title_full	Characterization of SSBP1-related optic atrophy and foveopathy
title_fullStr	Characterization of SSBP1-related optic atrophy and foveopathy
title_full_unstemmed	Characterization of SSBP1-related optic atrophy and foveopathy
title_sort	characterization of ssbp1-related optic atrophy and foveopathy
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/8fa606812b804c0a99225be600404957
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Characterization of SSBP1-related optic atrophy and foveopathy

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