Norrie disease in a family with a manifesting female carrier

Arch Ophthalmol. 1997 Apr;115(4):517-9. doi: 10.1001/archopht.1997.01100150519012.


Objectives: 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.

Patient: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blindness / genetics*
  • Developmental Disabilities / genetics*
  • Exons
  • Female
  • Heterozygote*
  • Humans
  • Infant
  • Mutation*
  • Nervous System Diseases / genetics*
  • Retinal Detachment / genetics*
  • Retinal Detachment / pathology
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology
  • X Chromosome