Retinal detachment in a patient with leber congenital amaurosis

To report the unique presentation of a patient with Leber congenital amaurosis who developed a tractional retinal detachment involving the macula and underwent successful pars plana vitrectomy surgery.

Retrospective interventional case report. Chart review.

A 54-year-old white woman, with molecularly confirmed CEP290-associated Leber congenital amaurosis, who initially presented with Snellen visual acuity of 20/200 in the right eye and 20/125 in the left eye and constricted visual fields. The maculae were flat, the vessels were attenuated, and the periphery was flat with diffuse atrophic changes and bone spicule-like pigmentation in both eyes. Follow-up examination, 3 years later, demonstrated a temporal tractional retinal detachment in the left eye, which involved the macula; however, the vision was stable. She presented 4 months later, and her vision declined to light perception in the left eye and the traction retinal detachment now involved the entire macula. A pars plana vitrectomy was performed, and 8 months later, the visual acuity improved to 20/300 in the left eye and the periphery was attached 360° with extensive bone spicule-like pigmentation and laser scars.

Leber congenital amaurosis is a rare inherited retinal disease that can be complicated by tractional retinal detachment. Vitrectomy surgery can be used successfully to repair retinal detachments in this patient population. The patient had subsequent improvement in visual acuity and anatomical reattachment.