{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:33:51Z","timestamp":1789727631382,"version":"4.0.1"},"reference-count":7,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T00:00:00Z","timestamp":1751500800000},"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>Sensenbrenner syndrome, or cranioectodermal dysplasia (CED), is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, ectodermal, and renal abnormalities. Ocular involvement, though infrequent, can include retinal dystrophy with early-onset visual impairment. We report a case of a 2-year-old boy with classic clinical features of CED and significant ocular findings. Genetic testing revealed two novel compound heterozygous variants in the WDR19 gene\u2014c.1778G&gt;T and c.3536T&gt;G\u2014expanding the known mutational spectrum associated with this condition. Ophthalmologic evaluation demonstrated bilateral optic nerve hypoplasia, high hyperopia, and severely reduced ERG responses, consistent with global retinal dysfunction. Fundoscopy revealed optic disk pallor, vessel attenuation, and peripheral pigment changes. Multisystem findings included postaxial polydactyly, brachydactyly, short stature, hypotonia, and stage 2 chronic kidney disease. This case highlights the importance of early ophthalmologic screening in suspected CED and underscores the utility of ERG in detecting early retinal involvement. The identification of two previously undescribed WDR19 variants contributes to genotype\u2013phenotype correlation in CED and emphasizes the need for ongoing documentation to guide diagnosis, management, and genetic counseling.<\/jats:p>","DOI":"10.3390\/diagnostics15131706","type":"journal-article","created":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T09:57:39Z","timestamp":1751536659000},"page":"1706","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome"],"prefix":"10.3390","volume":"15","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":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia","family":"Zdort","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":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<349::AID-AJMG3>3.0.CO;2-O","article-title":"Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)","volume":"70","author":"Amar","year":"1997","journal-title":"Am. 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Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1111\/nep.12996","article-title":"Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports","volume":"22","author":"Yoshikawa","year":"2017","journal-title":"Nephrology"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/13\/1706\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:04:06Z","timestamp":1760033046000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/13\/1706"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,3]]},"references-count":7,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2025,7]]}},"alternative-id":["diagnostics15131706"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15131706","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,3]]}}}