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Ophthalmology. 1984 Aug;91(8):991-8.

Ocular abnormalities in abetalipoproteinemia. A clinicopathologic correlation.


The present paper documents the clinical characteristics and ocular pathology in a patient with abetalipoproteinemia. Noteworthy were: the predominant involvement of the posterior fundus characterized by a loss of photoreceptors; loss or attenuation of the pigment epithelium (producing a sharply demarcated white appearance on ophthalmoscopy); preservation of the submacular pigment epithelium with an excessive accumulation of lipofuscin (including bizarre laminar profiles by electron microscopy); invasion of the retina by macrophage-like pigmented cells. The retina and pigment epithelium in the periphery were morphologically normal. The patient died of a presumably unrelated brain tumor which was believed to have accounted for the terminal blindness and loss of ganglion cells in the retina.

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