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[Bilateral chorioretinian colobome: about a case].

Seydou Diallo¹, Seydou Bakayoko¹, Brainima Coulibaly¹

¹Institut d'Ophtalmologie Tropicale de l'Afrique, Bamako, Mali.

The Pan African Medical Journal

|January 15, 2019

Summary

Bilateral papillar coloboma, a rare condition, can present without other congenital anomalies. Accurate diagnosis is crucial for managing potential associated neurologic or systemic disorders.

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Area of Science:

Ophthalmology
Medical Genetics

Background:

Chorioretinal coloboma presents diagnostic challenges due to potential associations with other disorders.
Accurate diagnosis is vital for identifying associated neurologic, endocrine, and systemic conditions.

Observation:

A 6-year-old boy presented with bilateral papillar coloboma.
The child had no other reported congenital malformations.
Family history revealed unremarkable ophthalmic examinations for the father and sister, but the mother had divergent strabismus.

Findings:

The case details a child with bilateral papillar coloboma without syndromic features.
This presentation underscores the variability in the manifestation of papillar coloboma.
Absence of associated anomalies in this patient contrasts with commonly reported cases.

Keywords:

Chorioretinian coloboma bilateral child

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Implications:

Accurate diagnosis of papillar coloboma is essential for early detection of potential associated conditions.
This case contributes to understanding the spectrum of papillar coloboma presentations.
Further research may elucidate genetic or environmental factors influencing associated anomalies.