{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T16:30:28Z","timestamp":1768235428108,"version":"3.49.0"},"reference-count":9,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T00:00:00Z","timestamp":1768176000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder characterized by bile duct paucity, congenital heart defects, characteristic facial features, skeletal anomalies, and distinctive ocular findings. Although anterior segment anomalies such as posterior embryotoxon are well recognized, posterior segment involvement has recently gained attention. We present fundus findings in a 2-year-old boy with genetically confirmed Alagille syndrome. Under general anesthesia, fundus examination revealed pink optic discs with blurred margins and drusen-like deposits, absence of the foveal reflex, and mottled hypopigmented and hyperpigmented areas that were consistent with retinal pigment epithelium (RPE) degeneration. Peripheral pigment clumping and RPE atrophy were also observed, while retinal vessels appeared normal. These features are characteristic of pigmentary retinopathy associated with ALGS and highlight the expanding spectrum of posterior segment changes in this condition. Recognition of such findings is essential, as they may contribute to visual impairment and support the systemic diagnosis.<\/jats:p>","DOI":"10.3390\/diagnostics16020241","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T12:44:44Z","timestamp":1768221884000},"page":"241","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6753-2904","authenticated-orcid":false,"given":"Bogumi\u0142a","family":"W\u00f3jcik-Niklewska","sequence":"first","affiliation":[{"name":"Department of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland"},{"name":"Professor Kornel Gibi\u0144ski University Hospital Center, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9595-0031","authenticated-orcid":false,"given":"Zofia","family":"Oliwa","sequence":"additional","affiliation":[{"name":"Students\u2019 Scientific Society, Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Dzi\u0119cio\u0142","sequence":"additional","affiliation":[{"name":"Students\u2019 Scientific Society, Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8528-955X","authenticated-orcid":false,"given":"Adrian","family":"Sm\u0119dowski","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland"},{"name":"Professor Kornel Gibi\u0144ski University Hospital Center, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"GlaucoTech Co., 40-282 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1080\/08820530701745108","article-title":"The Genetics and Ocular Findings of Alagille Syndrome","volume":"22","author":"Kim","year":"2007","journal-title":"Semin. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1167\/iovs.62.7.27","article-title":"Characterization of the Spectrum of Ophthalmic Changes in Patients with Alagille Syndrome","volume":"62","author":"Igelman","year":"2021","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s00417-006-0340-4","article-title":"Alagille syndrome and optic pit","volume":"245","author":"Fea","year":"2007","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_4","first-page":"230","article-title":"Macular atrophy in JAG1-related Alagille syndrome: A case series","volume":"43","author":"Scanga","year":"2021","journal-title":"Ophthalmic Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s10633-021-09836-w","article-title":"Long-term follow-up of a patient with JAG1-associated retinopathy","volume":"143","author":"Cheema","year":"2021","journal-title":"Doc. Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"101324","DOI":"10.1016\/j.preteyeres.2024.101324","article-title":"Syndromic retinitis pigmentosa","volume":"107","author":"Karuntu","year":"2025","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.survophthal.2007.12.003","article-title":"Eye manifestations of intrauterine infections and their impact on childhood blindness","volume":"53","author":"Mets","year":"2008","journal-title":"Surv. Ophthalmol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.4103\/ijo.IJO_786_20","article-title":"An update on autoimmune retinopathy","volume":"68","author":"Marchese","year":"2020","journal-title":"Indian J. Ophthalmol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S1673-8527(09)60077-1","article-title":"The Notch signaling pathway in retinal dysplasia and retina vascular homeostasis","volume":"37","author":"Zheng","year":"2010","journal-title":"J. Genet. Genom. Yi Chuan Xue Bao"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/2\/241\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T12:58:24Z","timestamp":1768222704000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/2\/241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,12]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["diagnostics16020241"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics16020241","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,12]]}}}