title: [LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].
abstract: BACKGROUND
  The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far.
  
  
  METHODS
  We report the cases of two 10-year-old identical twins and their mother, showing typical manifestations consistent with the LEOPARD syndrome. Additionally, colobomas of the iris, the retina and the choroid were detected.
  
  
  RESULTS
  In addition to the findings typical for the LEOPARD syndrome, we observed unusual ocular abnormalities in all three patients. It represents a discordant phenotype in monozygotic twins.
  
  
  CONCLUSIONS
  LEOPARD syndrome is a disease with multiple alterations and abnormalities. Although ocular malformations seem to be rare, an ophthalmological examination is recommended in order to initiate early visual rehabilitation.
authors.affiliation: Augenklinik, Ludwig-Maximilians-Universität München, Mathildenstrasse 8, 80336 München. Guenther.Rudolph@ak-i.med.uni-muenchen.de
authors.forename: G
authors.initials: G
authors.lastname: Rudolph
authors.forename: C
authors.initials: C
authors.lastname: Haritoglou
authors.forename: P
authors.initials: P
authors.lastname: Kalpadakis
authors.forename: K P
authors.initials: KP
authors.lastname: Boergen
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
mesh_terms: D000328:Adult; D002648:Child; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000150:complications* / Q000175:diagnosis; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D012160:Retina / Q000002:abnormalities*; D014430:Twins, Monozygotic