Unilateral 360° Peripapillary Myelinated Nerve Fibers with Axial Myopia and Amblyopia: Straatsma Syndrome

Abstract Myelinated retinal nerve fibers (MNRF) are not a rare congenital anomaly but discovered as an incidental finding in approximately 1% of all eyes. This developmental defect presents as grey-white patches with feathery margins, especially in the peripapillary area. MNRF can be either static or dynamic, and may be congenital or acquired. Straatsma syndrome is a rare condition characterized by a traditional triad of unilateral MNRF, axial myopia, and amblyopia. We hereby present a case report of a 23-year-old male patient diagnosed with this syndrome. Cycloplegic retinoscopy revealed a refractive error of −2.00/−0.75 × 75 in the right eye and plano in the left eye. Best corrected visual acuity improved to 20/40 in the right eye and 20/20 in the left eye. Multimodal imaging of the right fundus showed extensive myelination encircling the disc 360 degrees, obscuring the disc margins. The left eye appeared normal. Type 2 MNRF, unilateral myopia, and amblyopia are poor prognostic factors in this case.