Leber's Congenital Amaurosis as a Manifestation of Infantile Ceroid Lipofuscinosis (Haltia-Santavuori Type)

Abstract

A female child suffered of progressive visual loss and neurological deterioration beginning at the age of one year. The diagnosis of Leber's congenital amaurosis was made on the basis of bilateral pigmentary fundus changes and severely decreased amplitudes of the electroretinogram. When the patient died at the age of eight years, the diagnosis of ceroid lipofuscinosis (Haltia-Santavuori type) was established by autopsy. Severe atrophy of the retina and brain, especially the visual pathways, was associated with the electron microscopic finding of characteristic granular deposits in the cytoplasm of cells of the retina, retinal pigment epithelium, and brain. A review of histopathology reported in previous cases indicates that Leber's congenital amaurosis is not a single disease. A precise diagnosis of the underlying process is essential for prognosis and genetic counseling.