Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type

To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia-Strudwick type, a rare autosomal dominant genetic disorder involving abnormal production of Type II collagen.

Case report.

A 13-year-old patient diagnosed with spondyloepimetaphyseal dysplasia-Strudwick type presented with a localized superior temporal retinal detachment in the right eye and a 180° giant retinal tear with an associated macula-off retinal detachment in the left eye. He was highly myopic and had a visual acuity of 20/80 in the right eye and counting fingers in the left eye. He underwent a pars plana vitrectomy in the left eye and laser retinoplexy in the right eye, achieving complete reattachment and/or stabilization of both retinae, with a visual acuity of 20/60 in the right eye and 20/100 in the left eye at 3 months postoperatively.

Patients with spondyloepimetaphyseal dysplasia-Strudwick type may be at a higher risk of developing myopia, vitreoretinal degeneration, and a subsequent retinal detachment, although the scientific literature provides a loose association between these conditions. Critically, we propose a temporal association between retinal detachment and the onset of puberty in these patients and suggest that a dilated retinal screening examination should be scheduled at around the time of puberty for patients with spondyloepimetaphyseal dysplasia-Strudwick type to detect any asymptomatic retinal pathology.