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Sturge Weber Syndrome and Rod Cone Dystrophy.
QJM : Monthly Journal of the Association of Physicians 2023 August 13
A 38-year-old patient presented with decreased vision and was found to have right sided facial port-wine stain, telangiectasia of episcleral vessels, and posterior subcapsular cataract. Both eyes showed bone-spicule pigmentation throughout the fundus with arteriolar attenuation. He had a history of seizures and computed tomography (CT) scan of the brain revealed occipital lobe calcifications. This case describes an uncommon occurrence of rod cone dystrophy in a patient with Sturge Weber syndrome.
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