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[Atypical macular coloboma: a case report]
J C López-García1, J Buesa-Gómez, A Pardo-Saiz
1Hospital Universitario Joan XXIII, Tarragona, España. javiercorsini@eresmas.com
Archivos De La Sociedad Espanola De Oftalmologia
|January 3, 2007
Summary
Atypical macular colobomata, not congenital infection, caused vision problems in a child exposed to varicella in utero. Negative serology supported this diagnosis.
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.
