IllnessNorrie syndrome/disease

NGS *

Norrie disease is a rare, inherited eye condition that causes blindness in male infants at birth or shortly thereafter. Norrie disease causes impaired retinal development, leukocoria, shrunken iris or even microphthalmia/buphthalmia, and eventually cataracts may develop. About one-third of patients develop progressive hearing loss, and up to half show developmental delays, mental retardation, often with psychosis as well as circulatory, respiratory and digestive disorders. NDP gene mutations cause Norrie disease and X-linked inheritance. The diagnostic yield using molecular genetic methods depends essentially on the quality of the clinical characterization of the individual patient.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1331/

• Alias: Anderson-Warburg syndrome
• Alias: Atrophia bulborum hereditaria
• Alias: Congenital progressive oculo-acoustico-cerebral degeneration
• Alias: Episkopi blindness
• Alias: Fetal iritis syndrome
• Alias: Norrie disease
• Alias: Norrie syndrome
• Alias: Norrie's disease
• Alias: Norrie[-Warburg] disease (NDP)
• Alias: Oligophrenia microphthalmus
• Alias: Pseudoglioma congenita
• Alias: Whitnall-Norman syndrome