title: Norrie disease in a family with a manifesting female carrier.
abstract: OBJECTIVE
  To show that Norrie disease can occur in a girl and to describe her ophthalmologic and genetic features.
  
  
  METHODS
  Amplification of DNA polymerase chain reaction and sequencing of asymmetric polymerase chain reaction for exon 3 were performed on the blood specimen obtained from a girl born with bilateral retinal detachments.
  
  
  METHODS
  A female child with bilateral retinal detachment who had 2 uncles in whom Norrie disease had already been diagnosed.
  
  
  RESULTS
  The child had a mutation in the third exon (T776-->A; Ile 123-->Asn) identical to the mutation found in her uncles.
  
  
  CONCLUSIONS
  Norrie disease can occur in girls. The most likely explanation is nonrandom or unfavorable X inactivation, although timing of development of the peripheral retina and its blood supply could render it vulnerable to effects of the mutant allele at a critical developmental phase.
authors.affiliation: Developmental Neurogenetics Laboratories, Massachusetts General Hospital, Charlestown, USA.
authors.forename: K B
authors.initials: KB
authors.lastname: Sims
authors.forename: A R
authors.initials: AR
authors.lastname: Irvine
authors.forename: W V
authors.initials: WV
authors.lastname: Good
mesh_terms: D001766:Blindness / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics* / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome