Contributor: Jesse Vislisel, MD
Photographer: Toni Venckus, CRA
Norrie disease is an inherited condition secondary to a mutation in the NDP gene which produces the norrin protein. It follows an X-linked recessive inheritance pattern. The condition is characterized by incomplete development of the retinal vessels, similar to retinopathy of prematurity, and often also results in hearing impairment and intellectual disability. Patients may have white, hemorrhagic, retrolental masses with peripheral neovascularization, ultimately resulting in hemorrhagic, tractional retinal detachments. This patient with molecularly-confirmed Norrie disease exhibits retinal traction with temporal dragging of the retinal vessels and macula. Evidence of a scleral buckle for previous retinal detachment can be seen in the far periphery as well as intraretinal hemorrhages temporally.
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