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To distinguish between the classical <jats:italic>OPA1<\/jats:italic>-related and the recently identified <jats:italic>SSBP1<\/jats:italic>-related DOAs, the retina and fovea of 27 patients carrying the <jats:italic>SSBP1<\/jats:italic> p.Arg38Gln variant were scrutinized using 20\u00b0\u2009\u00d7\u200920\u00b0 macular cube and 30\u00b0 and 55\u00b0 field fundus autofluorescence photographs. Age of onset, visual acuity, retinal nerve fiber layer and macular thicknesses were recorded. Three <jats:italic>SSBP1-<\/jats:italic>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\u2009\u00b1\u20090.41) and those with combined foveopathy (0.50\u2009\u00b1\u20090.23). Two patients over 50\u00a0years of age developed a progressive rod-cone dystrophy, leading to severe visual impairment. <jats:italic>SSBP1<\/jats:italic>-related DOA shares similarities with <jats:italic>OPA1<\/jats:italic>-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 <jats:italic>SSBP1<\/jats:italic> cases and orient the appropriate genetic analysis.<\/jats:p>","DOI":"10.1038\/s41598-021-98150-1","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T10:21:27Z","timestamp":1632219687000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Characterization of SSBP1-related optic atrophy and foveopathy"],"prefix":"10.1038","volume":"11","author":[{"given":"Isabelle","family":"Meunier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9atrice","family":"Bocquet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Defoort-Dhellemmes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasily","family":"Smirnov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl","family":"Arndt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Christine","family":"Picot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majida","family":"Charif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Audo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8na","family":"Huguet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Zanlonghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,9,21]]},"reference":[{"key":"98150_CR1","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/j.survophthal.2009.10.002","volume":"55","author":"JA Fraser","year":"2010","unstructured":"Fraser, J. 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