Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.

Abstract

Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in 2 children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anesthesia or admission to hospital, is present as a reliable and very convenient technique for the diagnosis of infantile neuroaxonal dystrophy.