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Related Experiment Videos

Norrie's disease: a prospective study of development.

H M Goodyear1, P M Sonksen, H McConachie

  • 1Department of Developmental Paediatrics, Wolfson Centre, Hospital for Sick Children, London.

Archives of Disease in Childhood
|November 1, 1989
PubMed
Summary

Norrie disease, an X-linked blindness, does not appear to cause sensorineural deafness or dysmorphic features. Developmental progress in affected children is comparable to their blind peers, suggesting less severe outcomes than previously believed.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Developmental Pediatrics

Background:

  • Norrie disease is an X-linked condition historically associated with congenital blindness, mental retardation, sensorineural deafness, and dysmorphic features.
  • Previous reports have emphasized severe associated disabilities, causing significant family distress.
  • The long-term developmental trajectory and associated morbidities require further clarification.

Purpose of the Study:

  • To prospectively monitor developmental progress, hearing, and dysmorphic features in infants with Norrie disease.
  • To compare developmental outcomes between infants with Norrie disease and congenitally blind peers.
  • To reassess the commonly held beliefs regarding the severity of associated disabilities in Norrie disease.

Main Methods:

Related Experiment Videos

  • Prospective monitoring of developmental progress, hearing, and dysmorphic features.
  • Comparison of eight infants with Norrie disease and six congenitally blind controls during preschool years.
  • Assessment of developmental rates and identification of factors influencing progress.

    • Main Results:

    • No evidence of sensorineural deafness or dysmorphic features was observed in the Norrie disease group.
    • No significant difference in the rate of developmental progress was found between the Norrie disease group and controls.
    • Ten out of fourteen children demonstrated normal or superior developmental progress; suboptimal environments may have contributed to slowed development in some cases.

    Conclusions:

    • The study suggests that anxieties regarding severe associated disabilities in Norrie disease may often be unfounded.
    • Parental depression can negatively impact development, especially in blind infants.
    • More optimistic counseling and developmental guidance are recommended for infants with Norrie disease, pending further long-term data.