Norrie disease

Disease Overview

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.[2032][2033] Additional symptoms may occur in some cases, although this varies even among individuals in the same family.[2033] Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features.[2033][5172] Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern.[2032][2033] Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.[2033]  

Synonyms

• Atrophia bulborum hereditaria
• Pseudoglioma
• Episkopi blindness
• Norrie syndrome
• Norrie-Warburg syndrome
• Anderson-Warburg syndrome
• NDP
• Fetal iritis syndrome