Abstract

Purpose:
This case report aims to elucidate the clinical presentation, genetic and environmental factors, and management of a rare case of unilateral Anophthalmia.

Methods:
A 12-year-old male with congenital absence of the right eye was comprehensively examined, including genetic analysis. Data from imaging studies, such as CT and MRI, were included in the assessment.

Results:
The patient exhibited a combination of unilateral Anophthalmia, cleft lip, and palate, with genetic analysis indicating a potential SOX2 gene mutation. Imaging revealed a thinned right optic nerve and an atrophic eye. Management involved orbital rehabilitation.

Conclusion:
Unilateral Anophthalmia, although rare, can have genetic and environmental causes. A multidisciplinary approach is crucial for comprehensive care. This case highlights the need for genetic counseling, proper prenatal care, and public awareness about this condition to ensure early diagnosis and effective management.