Purpose: Acute zonal occult outer retinopathy (AZOOR) is one of the "white dot syndromes" a clinically heterogeneous group of inflammatory chorioretinopathies. The etiology is not yet clear.
Methods: We present a 50 years female patient with a prior history of migraine. She experienced progressive visual loss and visual field defects in the last 3 years. Preceding each episode she experienced blue flickering photopsias.
Results: Visual acuity was 0,3 in the right eye and 0,6 in the left eye. Biomicroscopy showed a normal anterior segment, fundus exam revealed pigment epithelial atrophy more pronounced in the worse eye. Electrophysiology showed a marked reduction in the photopic ERG in the more affected eye. MRI demonstrated multiple white matter lesions including a corpus callosum location. Lumbar puncture showed oligoclonal bands. Further tests demonstrated hearing impairment.
Therapy was instituted during the three years course of the disease with steroids, immune suppressants and plasmapheresis with visual loss being progressive. New photopsia is currently present.
Conclusions: The etiology of AZOOR remains unclear. With our patient being one of the few described in the literature with concomitant multiple sclerosis, the question remains on whether there is an underlying common process of inflammatory autoimmune reactions. Whether treatment is possible, remains to be evaluated.
Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and newly developing ocular disorders. He presented with nystagmus with different wave forms and directions and blepharospasm as well as cornea verticillata.
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