Laser treatment immediately after birth may preserve vision in Norrie’s disease

Norrie's disease is an X-linked recessive disorder characterized by retinal dysplasia and congenital or infantile blindness. The exact pathogenesis of Norrie's disease is unknown, but abnormal vascular development of the peripheral retina leads to retinal detachment, macular traction, and retinal folds.

This article describes the first reported use of prophylactic laser treatment immediately after C-section birth to prevent retinal detachment and blindness in a patient diagnosed with Norrie's disease by genetic testing with amniocentesis.

At one month postop, extraretinal fibrovascular proliferation regressed completely. At age 2, the child had not suffered retinal detachment, and Teller visual acuity  was 20/100 in both eyes. Both his vision and developmental milestones were deemed age-appropriate.

Even though this patient has maintained excellent health and functional age-appropriate vision as of this report, his long-term prognosis is uncertain because there are no other reported cases for comparison. However, the authors conclude that immediate prophylactic laser at birth should be considered in patients with Norrie's disease.