Atrophia bulborum hereditaria
Type of disease: Rare conditions
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Some affected individuals may develop hearing loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mutations in the NDP gene cause Norrie disease. It is inherited in an X-linked recessive pattern. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.