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Its clinical course is progressive, leading to premature death, and often includes visual loss due to severe retinal dystrophy. In rare cases, pathogenic variants in <jats:italic>MFSD8<\/jats:italic> can be associated with isolated non\u2010syndromic macular dystrophy with variable age at onset, in which the disease process predominantly or exclusively affects the cones of the macula and where there are no neurological or neuropsychiatric manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here we present longitudinal studies on four adult\u2010onset patients who were biallelic for four <jats:italic>MFSD8<\/jats:italic> variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two unrelated patients who presented with adult\u2010onset ataxia and had macular dystrophy on examination were homozygous for a novel variant in MFSD8 NM_152778.4: c.935T&gt;C p.(Ile312Thr). Two other patients presented in adulthood with visual symptoms, and one of these developed mild to moderate cerebellar ataxia years after the onset of visual symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our observations expand the knowledge on biallelic pathogenic <jats:italic>MFSD8<\/jats:italic> variants and confirm that these are associated with a spectrum of more heterogeneous clinical phenotypes. In <jats:italic>MFSD8<\/jats:italic>\u2010related disease, adult\u2010onset recessive ataxia can be the presenting manifestation or may occur in combination with retinal dystrophy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2505","type":"journal-article","created":{"date-parts":[[2024,8,7]],"date-time":"2024-08-07T07:37:21Z","timestamp":1723016241000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Maculopathy and adult\u2010onset ataxia in patients with biallelic <scp><i>MFSD8<\/i><\/scp> variants"],"prefix":"10.1002","volume":"12","author":[{"given":"Sigurd","family":"Dobloug","sequence":"first","affiliation":[{"name":"Department of Neurology Helsingborg General Hospital  Helsingborg Sweden"},{"name":"Department for Clinical Sciences, Lund, Neurology Lund University  Lund 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