The ocular pathology in Leber's congenital amaurosis.

PURPOSE: To present the ocular pathology of a three-year-old child with Leber's congenital amaurosis (LCA) who died from an unrelated episode of presumed viral meningitis.

METHODS

Autopsy was performed, and in addition the globes were harvested for pathological examination. Before the child's death, known systemic disorders with infantile retinal dystrophy were excluded.

RESULTS

The outer nuclear layer and photoreceptor layers are the primary site of retinal pathology in LCA.

CONCLUSION

This report of the pathological findings in LCA, early in the natural history of the disease, indicates that process appears to be a degeneration rather than an agenesis.