Norrie disease

Norrie disease is a dysplasia of the vitreous and retina. Due to its X-linked, recessive inheritance, female carriers remain symptom-free. The  gestational age is already in the newborn period.

In the first weeks of life, yellowish or white tissue from the immature retina collects behind the lens, resulting in a bilateral leukocoria. There are fewer blood vessels and elongated ciliary fossae on this tissue. Also, a fissured pre-chamber may occur. In n 1/3 of patients bilateral heaviness develops. Within a few months, the patients go blind. The locus is located in the chromosome region Xp11.4.