Neurologic abnormalities associated with persistent hyperplastic primary vitreous

Background: Persistent hyperplastic primary vitreous (PHPV) is usually a un ilateral ocular abnormality not associated with other systemic findings. We describe 16 patients, 7 with unilateral and 9 with bilateral PHPV, in whom significant neurologic abnormalities were identified. Methods: The clinical records of 16 children referred to the Visually Impai red Program at a university-affiliated children's hospital in Vancouver wer e studied from 1970 to 1996. Further investigations, including electroencep halography, computed tomography and pediatric neurologic evaluation, were p erformed to ascertain neurologic deficits. Results: Neurologic abnormalities were identified in three of the children with unilateral PHPV (hemiparesis, impaired coordination and homonymous hem ianopia) and seven of the children with bilateral PHPV (ataxia, impaired co ordination, hypotonia, spastic quadriplegia, microcephaly and deafness). Interpretation: The possibility of underlying neurologic abnormality should be considered in patients with PHPV, particularly those with bilateral dis ease. Referral to a pediatric neurologist may be appropriate.