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[Atypical macular coloboma: a case report].

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Area of Science:

  • Ophthalmology
  • Pediatric Ophthalmology
  • Medical Genetics

Background:

  • Maternal infections during pregnancy can lead to congenital abnormalities.
  • Varicella (chickenpox) infection in pregnancy poses risks to fetal development.
  • Retinochoroidal lesions in infants warrant thorough investigation for underlying causes.

Observation:

  • A 15-month-old boy presented with bilateral macular retinochoroidal lesions.
  • The child's mother had varicella infection during pregnancy.
  • Initial differential diagnosis included congenital chorioretinal infection.

Findings:

  • Serological tests for congenital infections were negative.
  • Clinical examination revealed features atypical for infectious scarring.
  • The macular lesions were ultimately diagnosed as atypical macular colobomata.

Implications:

  • This case highlights the importance of considering atypical macular colobomata in infants with suspected congenital infections.
  • Negative serology is crucial in differentiating infectious sequelae from developmental anomalies.
  • Accurate diagnosis is essential for appropriate management and genetic counseling.