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Related Experiment Videos

The eye in the CHARGE association.

I M Russell-Eggitt1, K D Blake, D S Taylor

  • 1Department of Ophthalmology, Hospital for Sick Children, London.

The British Journal of Ophthalmology
|July 1, 1990
PubMed
Summary

CHARGE association, a condition affecting multiple systems, frequently involves ocular abnormalities, particularly coloboma. This study found a higher incidence of coloboma in CHARGE patients than previously reported, suggesting potential underdiagnosis.

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Death in CHARGE syndrome after the neonatal period.

Clinical genetics·2010

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • The CHARGE association is a complex genetic disorder characterized by multiple congenital anomalies.
  • Ocular abnormalities are common in CHARGE syndrome, but the precise incidence of coloboma requires further clarification.

Purpose of the Study:

  • To determine the incidence of ocular abnormalities, specifically coloboma, in patients diagnosed with CHARGE association.
  • To compare the observed incidence of coloboma with previously reported figures.

Main Methods:

  • Retrospective review of 50 patients diagnosed with CHARGE association within a single center.
  • Detailed ophthalmological examination and documentation of ocular findings, including coloboma type and associated anomalies.

Main Results:

  • Ocular abnormalities were present in 44 out of 50 patients (88%).
  • Coloboma was identified in 43 out of 50 patients (86%), a higher incidence than previously reported (66%).
  • Common coloboma types included retinochoroidal with optic nerve involvement; iris defects were less frequent.

Conclusions:

  • The incidence of coloboma in CHARGE association is significantly higher than previously estimated.
  • There may be an underdiagnosis of coloboma in children with multiple congenital abnormalities, highlighting the need for thorough ophthalmological screening.

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