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Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence of lipofuscin deposits with typical pattern of \u2018fingerprints\u2019 and vacuolized lymphocytes suggest the diagnosis of CLN3. Cause of CLN3 are mutations in the <jats:italic>CLN3<\/jats:italic> gene, among which the most frequently found is the large deletion 1.02\u00a0kb spreading on exons 7 and 8. We present 4 patients from 2 families, in whom the deterioration of visual quality and acuity was observed as first clinical sign, when they were a few years old and it was successively accompanied by symptoms of neurologic deterioration (like generalized convulsions with consciousness impairment). In all patients the 1.02\u00a0kb deletion in the <jats:italic>CLN3<\/jats:italic> gene was detected in homo- or heterozygosity with other <jats:italic>CLN3<\/jats:italic> pathogenic variant. Ultrastructural studies revealed abnormal structures corresponding to \u2018fingerprint\u2019 profiles (FPPs) in conjunctival endothelial cells. It should be emphasized that in patients with blindness of unknown cause the diagnosis of ceroid lipofuscinosis should be considered and in older children\u2014especially CLN3. The facility of the analysis for the presence of 1.02\u00a0kb deletion and economic costs are a solid argument for intensive use of this test in the diagnostic procedure of CLN3.<\/jats:p>","DOI":"10.1007\/s11011-022-01148-5","type":"journal-article","created":{"date-parts":[[2022,12,28]],"date-time":"2022-12-28T10:08:29Z","timestamp":1672222109000},"page":"709-715","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease"],"prefix":"10.1007","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9305-9241","authenticated-orcid":false,"given":"Joanna Karolina","family":"Purzycka-Olewiecka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Hetma\u0144czyk-Sawicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6958-6239","authenticated-orcid":false,"given":"Tomasz","family":"Kmie\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3518-268X","authenticated-orcid":false,"given":"Dominika","family":"Szcz\u0119\u015bniak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9848-3674","authenticated-orcid":false,"given":"Joanna","family":"Trubicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4268-7707","authenticated-orcid":false,"given":"Maciej","family":"Krawczy\u0144ski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5589-0456","authenticated-orcid":false,"given":"Maciej","family":"Pronicki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2848-6407","authenticated-orcid":false,"given":"Agnieszka","family":"\u0141ugowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,12,28]]},"reference":[{"issue":"4","key":"1148_CR1","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1016\/j.survophthal.2009.04.007","volume":"54","author":"S Bozorg","year":"2009","unstructured":"Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA (2009) Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. 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