Select pediatric vitreoretinal disease in the setting of Turner's syndrome

PURPOSE: To report 2 cases of pediatric vitreoretinal disease in the setting of Turner's syndrome. OBSERVATIONS: A 4-year-old girl with Turner's syndrome was referred for evaluation of a tractional retinal detachment in the right eye. Fundoscopic examination disclosed temporal dragging of the macula in the right eye, and vascular nonperfusion in the right and left eyes. Genetic testing revealed a novel frameshift mutation in the LRP5 gene consistent with familial exudative vitreoretinopathy (FEVR). The patient was treated with laser. A 14-year-old girl with Turner's syndrome presented with nyctalopia. Dilated fundus exam disclosed peri-foveal pigmentary changes and peripheral bone spicules. Full-field electroretinography demonstrated decreased rod and cone responses, consistent with retinitis pigmentosa (RP). CONCLUSIONS AND IMPORTANCE: Vitreoretinal disease, including RP and FEVR, is rarely observed in patients with Turner's syndrome.