Unusual Straatsma Syndrome - How dogmatic is a bad prognosis?

PURPOSE: To show that Straatsma Syndrome can have a good outcome and to highlight an unusual presentation of this disease. OBSERVATIONS: A four-year-old boy presents with severe right eye amblyopia in association with high myopia, esotropia, heterochromia iridum and extensive myelinated retinal fibers involving both temporal arcades and the optic nerve head. Right eye initial visual acuity was less than 20/400 for distance and less than R6W10 for near. Left eye examination was unremarkable. Despite the indicators for bad prognosis, intensive occlusion therapy was prescribed. Parents were strongly involved in the treatment regimen. After four months, the patient presented an unexpected good visual recovery both for distance and near, that has persisted until present. Right eye visual acuity is 20/30 with −9.00 dioptres contact lens for distance and R2W1 for near. Esotropia also improved to 12 prism dioptres. Fundoscopic alterations and heterochromia iridum have remained stable. Spectral-domain optical coherence tomography images of the right eye showed thinner superior outer ring measurements. CONCLUSIONS AND IMPORTANCE: Straatsma Syndrome can present with heterochromia iridum. When strabismus is present, early surgery should be withheld. Intensive treatment of Straatsma Syndrome can yield an unexpected good result, despite initial high degree anisometropia and low vision acuity.