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This cross-sectional case series reports a novel phenotypic manifestation of <jats:italic>CERKL<\/jats:italic>-associated retinopathy. Four unrelated patients with homozygous <jats:italic>CERKL<\/jats:italic> mutations underwent a complete ocular exam, spectral-domain optical coherence tomography, short-wavelength fundus autofluorescence (SW-AF), quantitative autofluorescence (qAF), and full-field electroretinogram (ffERG). Decreased visual acuity and early-onset maculopathy were present in all patients. All four patients had extensive hyperautofluorescent foci surrounding an area of central atrophy on SW-AF imaging, which has not been previously characterized. An abnormal spatial distribution of qAF signal was seen in one patient, and abnormally elevated qAF<jats:sub>8<\/jats:sub> signal in another patient. FfERG recordings showed markedly attenuated rod and cone response in all patients. We conclude that these patients exhibit several features that, collectively, may warrant screening of <jats:italic>CERKL<\/jats:italic> as a first candidate: early-onset maculopathy, severe generalized retinal dysfunction, peripheral lacunae, intraretinal pigment migration, and hyperautofluorescent foci on SW-AF.<\/jats:p>","DOI":"10.1038\/s41598-018-37578-4","type":"journal-article","created":{"date-parts":[[2019,1,29]],"date-time":"2019-01-29T11:03:17Z","timestamp":1548759797000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration"],"prefix":"10.1038","volume":"9","author":[{"given":"Jesse D.","family":"Sengillo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galaxy Y.","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarjaliis","family":"Paavo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winston","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenia","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruben","family":"Jauregui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet R.","family":"Sparrow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rando","family":"Allikmets","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,1,29]]},"reference":[{"key":"37578_CR1","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.bbalip.2004.11.012","volume":"1687","author":"F Bornancin","year":"2005","unstructured":"Bornancin, F. et al. 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