Norrie Disease

Norrie disease is characterized by vision loss at birth or a few weeks after an eye lesion such as retinal detachment occurs which threatens vision and can lead to severe visual impairment or loss of vision. Norrie disease mostly occurs in males, but females can show milder symptoms. Norrie disease is progressive through childhood and adolescence. Additional symptoms may occur in some people, although this varies even among individuals in the same family. Most affected males develop hearing loss which is progressive over many years.

Reference: Rare Diseases (NORD)