SUMMARY:
Norrie disease is a rare X-linked condition characterized by early childhood blindness and later onset sensorineural hearing loss. We report two male infants with genetically confirmed Norrie disease and characteristic ocular abnormalities consisting of bilateral funnel retinal detachments, anterior segment dysgenesis, and/or buphthalmos and microphthalmia. MRI demonstrated enhancement of the cranial nerves, cochleae, and cerebellum with cerebellar restricted diffusion. Intracranial fin…