No abstract

We describe a new syndrome with autosomal dominant transmission whose most striking feature is vascular retinopathy. The retinopathy is often associated with migraine, Raynaud's phenomenon and mental changes, mainly forgetfulness, aggression and depression. To define this syndrome we collected medical data on 110 family members. General ophthalmological examination and fluorescein angiography were performed in 61 persons. The retinopathy, as diagnosed in 22 persons, is characterized by central and peripheral microangiopathy, areas of capillary non-perfusion, haemorrhages, cotton wool spots and, in a more advanced stage, occlusion of large retinal vessels, which can induce a neovascular response. A vascular occlusive disorder may be the common aetiological factor of the various manifestation of this syndrome.

A 35-year-old man with ulcerative colitis who was receiving parenteral feeding with large amounts of glucose, suddenly developed severe optic neuropathy and oculomotor palsy. The visual acuity fell bilaterally to 0. Although it was stated that thiamine has been regularly supplemented in the preceding period, high doses of vitamin B1 were given. Visual acuity promptly returned to 1.0 but large visual field defects persisted. Later on it appeared that erroneously no vitamin B1 has been given before.