'Leopard spot' retinopathy in Warburg syndrome.
A female infant with brain and muscle abnormalities characteristic of Warburg syndrome had an atypical retinal dysplasia which appeared clinically as a 'leopard spot' retinopathy. The retinal histology is described in detail and is remarkable for periodic thinning of the inner nuclear layers and for isolated rosettes in the periphery. We believe 'leopard spot' retinopathy is yet another ocular manifestation of the Warburg syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome