Peripheral Rhegmatogenous Retinal Detachment in Straatsma Syndrome: A Case Report

Straatsma syndrome is a rare congenital condition classically defined by the triad of persistent myelinated retinal nerve fibers, ipsilateral axial myopia, and amblyopia. Although generally regarded as a stable developmental anomaly, growing evidence suggests that eyes with Straatsma syndrome may harbor clinically relevant abnormalities of the vitreoretinal interface, predisposing them to late-onset retinal detachment. Most reported cases describe macular hole-associated retinal detachment driven by focal, abnormally strong vitreoretinal adhesion overlying myelinated fibers at the macula. Peripheral rhegmatogenous mechanisms, however, remain poorly characterized.

We report a 64-year-old man with longstanding unilateral Straatsma syndrome who presented with sudden, severe visual loss. Fundus examination and ultrasonography revealed a macula-involving rhegmatogenous retinal detachment originating from a superonasal peripheral retinal tear, without evidence of macular hole formation. Intraoperatively, pars plana vitrectomy disclosed unusually firm vitreoretinal adhesion at the site of the peripheral break, despite the absence of visible myelinated nerve fibers in that region. The patient underwent combined phacoemulsification, pars plana vitrectomy, scleral buckling, and silicone oil tamponade, achieving complete retinal reattachment. Postoperatively, chronic cystoid macular edema developed and was successfully treated with silicone oil removal and intravitreal dexamethasone implantation. Final best corrected visual acuity improved to 20/60, consistent with the pre-existing amblyopia.

This case documents a peripheral, tear-related rhegmatogenous retinal detachment in Straatsma syndrome, a mechanism distinct from the macular hole-driven pathway most commonly reported. Although the coexisting high axial myopia constitutes a well-established independent risk factor for peripheral retinal breaks, the intraoperative observation of unusually firm vitreoretinal adhesion at a site devoid of visible myelinated fibers raises the hypothesis that Straatsma syndrome may involve a diffuse abnormality of the vitreoretinal interface extending beyond areas of clinically apparent myelination. As a single observational case, these findings are hypothesis-generating and cannot establish causality; nevertheless, they underscore the importance of meticulous peripheral retinal examination and long-term surveillance in affected patients, particularly in the presence of high axial myopia.