Özlem Ural FATİHOĞLU, Sercan TAKIL, Barbaros Hayrettin ÜNLÜ, Meryem Altın EKİN, Taylan ÖZTÜRK, Aylin YAMAN, Ayşe Tülin BERK
Journal of Basic and Clinical Health Sciences - 2026;10(1):104-110
Purpose: Anophthalmia is a rare congenital ocular malformation defined by the complete absence of the eyeball. It may occur as an isolated finding or systemic and syndromic abnormalities. This study aimed to evaluate the clinical and systemic features of patients with anophthalmia in a tertiary care center. Materials and Methods: A retrospective review was performed on patients diagnosed with unilateral or bilateral anophthalmia at the Ophthalmology Department of Dokuz Eylul University Hospital between January 2005 and July 2025. Demographic data, ocular findings, and systemic evaluations were analyzed. Results: Fifteen patients were included, with a mean age of 1.84 +/- 2.94 years. Unilateral anophthalmia was found in nine patients and bilateral in six. Systemic anomalies were present in 11 patients (73.3%). Four patients (26.6%) had syndromic diagnoses, including CHARGE, Goldenhar, and Fryns syndromes. The most common non-syndromic anomalies were congenital heart defects and craniofacial malformations. A history of consanguinity was observed in six patients (40%). Conclusion: The high frequency of systemic and syndromic associations, particularly in bilateral cases, emphasizes the importance of a multidisciplinary approach. Early neuroimaging, systemic screening, and genetic counseling are essential for optimal diagnosis and management.
