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Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia
Bogumiła Wójcik-Niklewska1,2, Zofia Oliwa3, Paulina Sawuła3
1Department of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland.
Diagnostics (Basel, Switzerland)
|January 28, 2026
Summary
Geleophysic dysplasia (GD), a rare skeletal disorder, can manifest with optic disc drusen and retinal ganglion cell dysfunction. Early ophthalmologic evaluation is crucial for affected children.
Area of Science:
- Genetics
- Ophthalmology
- Skeletal Dysplasias
Background:
- Geleophysic dysplasia (GD) is a rare genetic skeletal disorder.
- It is characterized by short stature, distinctive facial features, thickened skin, and cardiac issues.
Purpose of the Study:
- To report a case of GD with novel ocular manifestations.
- To highlight the importance of comprehensive eye exams in GD patients.
Main Methods:
- Case report of a 3-year-old boy with GD.
- Genetic testing identified a heterozygous c.5198G>A variant in the FBN1 gene.
- Ophthalmologic examinations included funduscopy, ocular ultrasonography, photopic negative response (PhNR), and pattern visual evoked potential (VEP).
Main Results:
- The patient presented with strabismus, elevated intraocular pressure, and features consistent with optic disc drusen.
- PhNR testing revealed reduced amplitudes, indicating retinal ganglion cell dysfunction.
- Pattern VEP showed normal P100 latencies but reduced amplitude in one eye.
Conclusions:
- Optic disc drusen and retinal ganglion cell dysfunction are potential ocular manifestations of GD.
- Comprehensive ophthalmologic evaluation is essential for patients with geleophysic dysplasia.
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