Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia

TL;DR

A 3-year-old boy with geleophysic dysplasia showed rare eye issues like optic disc drusen and retinal dysfunction, highlighting the need for eye exams in this condition.

Contribution

This case is the first to report optic disc drusen and retinal ganglion cell dysfunction in geleophysic dysplasia.

Findings

Ocular ultrasonography confirmed optic disc drusen in the patient with geleophysic dysplasia.

PhNR testing showed reduced retinal ganglion cell function in both eyes.

Pattern VEP indicated normal P100 latencies but reduced amplitude in the left eye.

Abstract

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>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.

Figures