Abstract：
: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.
journal_name
Ophthalmologyjournal_title
Ophthalmologyauthors
Cogan DG,Rodrigues M,Chu FC,Schaefer EJdoi
10.1016/s0161-6420(84)34203-8subject
Has Abstractpub_date
1984-08-01 00:00:00pages
991-8issue
8eissn
0161-6420issn
1549-4713pii
S0161-6420(84)34203-8journal_volume
91pub_type
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