Three children with ceroid-lipofuscinosis and their mother were investigated fluorescein angiographically and electrophysiologically after definitive diagnosis of the oldest child had been made from a brain biopsy specimen studied biochemically, histopathologically, and ultrastructurally. The diagnostic features of the two classes of familial amaurotic idiocy (the gangliosidoses and the ceroid-lipofuscinoses) are reviewed with emphasis on the importance of the fundus picture and fluorescein angiographic study in differentiating the two classes of disease and in identifying affected siblings.
Hittner HM, Zeller RS. Ceroid-Lipofuscinosis (Batten Disease): Fluorescein Angiography, Electrophysiology, Histopathology, Ultrastructure, and a Review of Amaurotic Familial Idiocy. Arch Ophthalmol. 1975;93(3):178–183. doi:10.1001/archopht.1975.01010020186003
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