Advertisement

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Norrie Disease

  • Background:
    • Persistent hyperplastic primary vitreous (PHPV) is the second most common cause of childhood leukocoria. It represents about 5% of all the cases congenital blindness.
    • In approximately 95% of cases, PHPV is unilateral. However, if a child has bilateral PHPV (as in this case), the possibility of a retinal dysplasia (such as Warburg syndrome, Norrie disease, etc) must be considered.
  • Clinical Presentation:
    • Norrie disease is an X-linked recessive disorder characterized by bilateral PHPV and conductive hearing loss, which begins in the second decade of life. Other clinical features include developmental delay, seizures, movement disorders, behavioral problems, and psychotic symptoms.
  • Key Diagnostic Features:
    • Norrie disease is usually diagnosed on the basis of classic clinical findings and a positive family history. Genetic testing for the pseudoglioma (Ndp) gene can confirm the diagnosis. In this case, history of bilateral PHPV in the child’s elder brother along with conductive hearing loss strongly pointed towards a diagnosis of Norrie disease.
  • Differential Diagnosis:
    • Differential diagnoses of PHPV include retrolental fibroplasia, coat’s disease, retinoblastoma, and ocular toxocariasis.
  • Treatment:
    • There is no definitive treatment available for PHPV. However, genetic counseling may be offered to the parents.
December 14, 2015
A 5-month-old boy brought by his parents to the clinic for evaluation of bilateral leukokoria. Examination revealed bilateral retrolental masses. His elder brother was also blind by birth and developed hearing loss at the age of 12 years. His 2 elder sisters were completely normal.
View Case
Advertisement
Subscribe to RSS - Norrie Disease