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.
D000012:Abetalipoproteinemia / Q000150:complications*; D000328:Adult; D005260:Female; D005654:Fundus Oculi / Q000473:pathology*; D006801:Humans; D008062:Lipofuscin; D008264:Macrophages / Q000473:pathology; D008854:Microscopy, Electron; D010786:Photoreceptor Cells / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012160:Retina / Q000473:pathology
D008062:Lipofuscin