Akademik Veri Yönetim Sistemi
JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES, cilt.10, ss.104-110, 2026 (ESCI, TRDizin)
ABSTRACT
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.
Keywords: Anophthalmia, congenital ocular malformation, systemic anomalies, syndromic diagnosis,
neuroimaging, consanguinity