Insights into Straatsma syndrome: a pediatric case report

Straatsma syndrome (SS) is a rare congenital entity defined by myelinated retinal nerve fibers (MRNF), amblyopia, and axial myopia, frequently with marked anisometropia and strabismus. Visual prognosis is often guarded, yet early multimodal management may modify outcomes.

We report a pediatric right-eye SS with extensive, type-2 MRNF. At baseline the patient had alternating esotropia and high anisomyopia (cycloplegic refraction: RE -19.25/-2.50 × 005 D; LE -4.00/-3.00 × 165 D). Axial length measured 32.0 mm (RE) and 25.5 mm (LE). Optical coherence tomography (OCT) showed parafoveal retinal nerve fiber layer hyperreflectivity with foveal sparing. Management comprised full cycloplegic optical correction and structured occlusion/orthoptic therapy initiated at age 2, introduction of a scleral lens at age 7 to improve image quality and reduce aniseikonia, and strabismus surgery at age 10. Follow-up continued to age 13.

Despite severe amblyopia and anisometropia, best-corrected visual acuity (BCVA) in the affected eye improved from 0.7 to 0.1 logMAR by age 10 and was 0.0 logMAR at age 13, with stable primary-gaze alignment. The scleral lens was worn ≥8h/day and was well tolerated; it optimized retinal image quality and minimized spectacle-induced minification/aniseikonia associated with the high myopic correction.

This case illustrates that, even in the presence of type-2 MRNF, extreme axial length, and high anisometropia - features traditionally linked to poor prognosis - early aggressive amblyopia therapy, contact-lens - based aniseikonia control, and timely alignment surgery can achieve excellent long-term visual outcomes. The timeline underscores the importance of starting therapy in early childhood and maintaining adherence through optical optimization and orthoptics. While a single case cannot define generalizability, it supports the view that structural macular integrity on OCT, coupled with coordinated multimodal care, can overcome several adverse prognostic factors in SS.