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The proband, referred with suspected Best\u2019s disease, underwent a retinal dystrophy panel and two affected family members were target sequenced for the familial variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The NM_001903.5:c.953T\u2009&gt;\u2009C variant in\n                      <jats:italic>CTNNA1<\/jats:italic>\n                      segregated with affected family members. They maintained a visual acuity of 20\/25 or better throughout 2\u20134 years of follow-up. The proband exhibited butterfly-shaped pigment dystrophy whilst his sister had no macular lesions, and their mother had foveal pigmentary changes. All three displayed peripheral retinal reticular pigmentation with variable atrophy. Microperimetry demonstrated enlarging paracentral scotoma in the proband whilst Esterman binocular suprathreshold test showed reproducible peripheral loss in the proband\u2019s sister. Multifocal electroretinography (ERG) confirmed central macular dysfunction in the proband. In all three, full-field ERG showed mildly delayed dark-adapted (DA) 0.01 b-wave and DA3.0 a-wave, and a light-rise of\u2009&lt;\u20091.7 in one or both eyes on electro-oculography (EOG).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>CTNNA1<\/jats:italic>\n                      -associated retinal dystrophy due to p.(Leu318Ser) has a unique peripheral retinal phenotype despite variable macular involvement. Reduced EOG light-rise and peripheral reticular pigmentation should raise suspicion of\n                      <jats:italic>CTNNA1<\/jats:italic>\n                      in butterfly-shaped pigment dystrophy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10633-025-10027-0","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T02:29:04Z","timestamp":1748831344000},"page":"239-246","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features"],"prefix":"10.1007","volume":"151","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3590-0477","authenticated-orcid":false,"given":"Jonathan A.","family":"Alexis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2101-5689","authenticated-orcid":false,"given":"Prathiba","family":"Ramakrishnan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1772-6919","authenticated-orcid":false,"given":"Matthew K.","family":"Kenworthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3553-6457","authenticated-orcid":false,"given":"Jennifer A.","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6603-2548","authenticated-orcid":false,"given":"Enid S.","family":"Chelva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2809-9930","authenticated-orcid":false,"given":"Fred K.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,6,2]]},"reference":[{"key":"10027_CR1","first-page":"138","volume":"9","author":"JJ van Lith-Verhoeven","year":"2003","unstructured":"van Lith-Verhoeven JJ, Cremers FP, van den Helm B et al (2003) Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. 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