Prophylactic Scleral Buckle Implantation in Knobloch Syndrome

Knobloch syndrome is a rare autosomal recessive disorder characterized by a triad of high myopia, vitreoretinal degeneration, and congenital occipital scalp defects. On literature review of all reported cases, 25 of 85 eyes (29%) of patients diagnosed as having Knobloch syndrome have suffered retinal detachment. Due to high myopia, surgical repair of the retinal detachment is challenging and patients frequently require several reoperations. Even after vitrectomy or scleral buckle for retinal detachment, the final visual acuity outcomes are poor, with 11 of 12 (92%) patients having 20/200 visual acuity or worse and 6 of 12 (50%) having counting fingers visual acuity or worse. The role of retinal detachment prophylaxis has been discussed for other vitreoretinal degeneration disorders, but not for this disease. The authors report the case of a child affected with Knobloch syndrome who presented with total retinal detachment in the left eye at 24 months of age. He underwent successful repair and was then treated with prophylactic scleral buckle implantation in the right eye 5 months later. The retina in both of his eyes remains attached 4 years later. [J Pediatr Ophthalmol Strabismus 2014;51:e40–e43.]