Contributor: Gordon K. Klintworth
Retinal dysplasia (retinal dysgenesis) is congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina is often detached [retinal detachment] and contains numerous tubular structures and rosettes. The eye is often microphthalmic [microphthalmos] and the disorder is frequently a component of a systemic syndrome. It is a conspicous feature of Patau syndrome. Retinal dysplasia needs to be considered in the clinical differential diagnosis of retinoblastoma. One type of retinal dysplasia is inherited as a X-linked recessive disorder [retinal dysplasia - primary X-linked].