{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T03:01:10Z","timestamp":1784602870340,"version":"3.55.0"},"reference-count":9,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"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>Geleophysic dysplasia (GD) is a rare genetic skeletal disorder belonging to the acromelic group, characterized by short stature, distinctive facial features, thickened skin, and progressive cardiac involvement. We report a case of a 3-year-old boy with GD caused by a heterozygous c.5198G&gt;A variant in the FBN1 gene, presenting with ocular abnormalities. The patient demonstrated coarse facial features, short hands and feet, and a history of mitral valve stenosis requiring mechanical valve replacement. He was referred to the ophthalmology department for evaluation of left eye strabismus and elevated intraocular pressure. Fundus examination revealed a pink optic disc with blurred margins, slightly elevated above the retinal plane, absent foveal reflex, and tortuous vessels, consistent with optic disc drusen on ocular ultrasonography. Photopic negative response (PhNR) testing showed markedly reduced amplitudes in both eyes, indicating retinal ganglion cell dysfunction. Pattern VEP revealed normal P100 latencies in both eyes, with a 30% reduction in amplitude in the left eye, likely related to poorer fixation. This case highlights optic disc drusen and retinal ganglion cell dysfunction as potential ocular manifestations of geleophysic dysplasia, emphasizing the need for comprehensive ophthalmologic evaluation in affected patients.<\/jats:p>","DOI":"10.3390\/diagnostics16020193","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:34:21Z","timestamp":1767789261000},"page":"193","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia"],"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, 40-514 Katowice, Poland"},{"name":"Professor Kornel Gibi\u0144ski University Hospital Center, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina","family":"Sawu\u0142a","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, 40-514 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":[[2026,1,7]]},"reference":[{"key":"ref_1","first-page":"8212417","article-title":"The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes","volume":"2018","author":"Globa","year":"2018","journal-title":"Case Rep. Endocrinol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ejmg.2017.11.018","article-title":"A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia","volume":"61","author":"Cheng","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0140-6736(71)92073-3","article-title":"Geleophysic dwarfism\u2014A \u201cfocal\u201d mucopolysaccharidosis?","volume":"298","author":"Spranger","year":"1971","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ajhg.2011.05.012","article-title":"Mutations in the TGF\u03b2 binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias","volume":"89","author":"Mahaut","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Li, L., Huang, J., and Liu, Y. (2024). The extracellular matrix glycoprotein fibrillin-1 in health and disease. Front. Cell Dev. Biol., 11.","DOI":"10.3389\/fcell.2023.1302285"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"637","DOI":"10.4103\/IJO.IJO_937_24","article-title":"Advances in origin, evolution, and pathogenesis of optic disc drusen: A narrative review","volume":"73","author":"Liu","year":"2025","journal-title":"Indian J. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1002\/ajmg.a.61268","article-title":"Optic disc swelling in acromicric and geleophysic dysplasia","volume":"179A","author":"Moey","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.jaapos.2003.07.007","article-title":"Ocular findings in geleophysic dysplasia","volume":"8","author":"Zhang","year":"2004","journal-title":"J. Am. Assoc. Pediatr. Ophthalmol. Strabismus"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"122","DOI":"10.4103\/0301-4738.104401","article-title":"Geleophysic dysplasia associated with bilateral angle closure glaucoma","volume":"61","author":"Saricaoglu","year":"2013","journal-title":"Indian J. Ophthalmol."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/2\/193\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:39:19Z","timestamp":1767789559000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/2\/193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,7]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["diagnostics16020193"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics16020193","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,7]]}}}