title: [Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].
abstract: BACKGROUND
  Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported.
  
  
  METHODS
  A three-month-old boy with intrauterine growth retardation and microcephaly was referred to our clinic. The ophthalmic examination revealed a left eye with a persistent hyperplastic primary vitreous. On funduscopy of the right eye pale optic disc, chorioretinal dysplasia with pigmentary and atrophic changes and falciform folds were noted. General morphological changes and ophthalmological findings led to the diagnosis of MLCRD-syndrome.
  
  
  RESULTS
  Eye examinations of the parents and the grandparents did not show any retinal changes, therefore an autosomal dominant inheritance was excluded.
  
  
  CONCLUSIONS
  An ophthalmological examination in children with microcephaly and facial dysmorphies is essential. Parents and grandparents should also be considered for eye examination if a child has chorioretinal dysplasia and microcephaly.
authors.affiliation: Augenklinik, Luzerner Kantonsspital, Luzern, Schweiz. salome.hatt@triemli.stzh.ch
authors.forename: S C
authors.initials: SC
authors.lastname: Hatt Brupbacher
authors.forename: O
authors.initials: O
authors.lastname: Job
authors.forename: P
authors.initials: P
authors.lastname: Senn
authors.forename: W
authors.initials: W
authors.lastname: Dedes
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D002829:Choroid / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008209:Lymphedema / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D015792:Retinal Dysplasia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D013577:Syndrome