Ocular findings in a patient with Kugelberg-Welander syndrome: a case report.
A four-year-old female child with Kugelberg-Welander syndrome has been presented. She demonstrated ptosis, exotropia, and decreased vision with unilateral high myopia. Unlike the Werdnig-Hoffman type of spinal muscular dystrophy Kugelberg-Welander disease has a protracted, somewhat benign course, necessitating proper evaluation and care of the ocular problems of these patients. The most common among these problems are the presence of severe to moderate ptosis and strabismus which appears usually to be an exotropia.
D000293:Adolescent; D000328:Adult; D000550:Amblyopia / Q000150:complications; D002648:Child; D002675:Child, Preschool; D005094:Exophthalmos / Q000150:complications; D005128:Eye Diseases / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis; D009216:Myopia / Q000150:complications; D009422:Nervous System Diseases / Q000150:complications* / Q000175:diagnosis; D011247:Pregnancy; D013285:Strabismus / Q000150:complications; D013577:Syndrome