title: Ocular manifestations of congenital muscular dystrophy (Fukuyama type).
abstract: Ocular manifestations in two cases of congenital muscular dystrophy of Fukuyama type were reported. This disease is characterized by early onset of hypotonia, generalized muscle weakness and atrophy, mental retardation, and elevated serum creatine-phosphokinase activity. The symptoms include entropion of lower lids, pathological myopia with astigmatism, optic nerve pallor, and irregular grayish subretinal mottling. Case 1 showed additional features of posterior staphyloma, dragged papillomacular vessels, peripheral grayish-white discoloration of the retina, and rete mirabile as well as abnormal vascular anastomosis.
mesh_terms: D001251:Astigmatism / Q000150:complications; D001284:Atrophy / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology; D004774:Entropion / Q000150:complications; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D009216:Myopia / Q000150:complications; D009901:Optic Nerve Diseases / Q000150:complications; D012171:Retinal Vessels / Q000002:abnormalities; D012590:Sclera / Q000002:abnormalities