Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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December 14, 2015
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.
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