Conjunctival biopsy in infantile neuroaxonal dystrophy

Abstract

PURPOSE: To describe a case of infantile neuroaxonal dystrophy with optic nerve atrophy and to discuss the diagnostic role of conjunctival biopsy.METHODS: We performed a complete ophthalmologic examination and a diagnostic conjunctival biopsy on a girl with a neurodegenerative disease.RESULTS: On the basis of ''spheroid'' inclusions in the unmyelinated axons, we diagnosed infantile neuoroaxonal dystrophy.CONCLUSIONS: Optic atrophy is an important finding in infantile neuroaxonal dystrophy, and conjunctival biopsy is a reliable and very convenient diagnostic test.