RETINAL DYSTROPHIES AND SYNDROMES
Norrie's disease (Norrie-Warburg disease) is an X-linked vitreoretinal dysplasia caused by a mutation in the gene Xp11.4.
Systemic findings also include psychomotor retardation (65%), and other systemic abnormalities (cardiac, pulmonary, skeletal, genitourinary, and gastrointestinal). It is associated with microphtalmia, hypoplasic iris, synechiae, glaucoma, and cataract.
Ocular manifestations occur during the first weeks of life. A whitish or yellowish mass of immature retina behind the lens causes bilateral leukocoria. The disorder quickly progresses to atrophy of the eyeball (phthisis) causing blindness.
For the time being, there is no treatment for this disease.