Clinical Congenital Anophthalmia and Associated Systemic Anomalies: A Retrospective Clinical Study

Abstract

Purpose: Anophthalmia is a rare congenital ocular malformation characterized by the complete absence of the globe. This condition may occur as an isolated anomaly or in association with multiple systemic disorders and syndromic presentations. This study aimed to evaluate the clinical characteristics and associated systemic anomalies of patients diagnosed with anophthalmia in a tertiary care center. Materials and Methods: A retrospective chart review was conducted 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, detailed ocular findings, and systemic evaluations were analyzed. Results: A total of 15 patients were included, with a mean age of 1.84 ± 2.94 years at the time of our first examination. Unilateral anophthalmia was observed in 9 patients, and bilateral in 6. Systemic anomalies were identified in 11 out of the 15 evaluated cases (73.3%). A syndromic diagnosis was made in 4 patients (26.6%), including CHARGE syndrome, Goldenhar syndrome, and Fryns syndrome. Among non-syndromic patients, 39 systemic anomalies were identified: congenital heart defects (n = 10), craniofacial anomalies (n = 10), central nervous system abnormalities (n = 8), musculoskeletal abnormalities (n = 4), genitourinary anomalies (n = 2), gastrointestinal and abdominal wall anomalies (n = 2), and respiratory anomalies (n = 3). Notably, six patients (40%) had a history of consanguineous parentage. Conclusion: The frequent presence of associated systemic anomalies, especially in bilateral cases and those with syndromic features, highlights the necessity of comprehensive, multidisciplinary evaluation in patients with anophthalmia. Early identification of life-threatening or developmentally impactful anomalies can significantly influence prognosis and management. Routine neuroimaging, systemic screening, and genetic counseling should be essential parts of the diagnostic process for these patients.

Keywords

• Anophthalmia
• congenital ocular malformation
• systemic anomalies
• syndromic diagnosis
• neuroimaging
• consanguinity

Clinical Congenital Anophthalmia and Associated Systemic Anomalies: A Retrospective Clinical Study

Abstract

Amaç: Anoftalmi, göz küresinin tamamen yokluğu ile karakterize nadir bir konjenital oküler malformasyondur. Bu durum izole bir anomali olarak ortaya çıkabileceği gibi, çoklu sistemik hastalıklar ve sendromik tablolarla birlikte de görülebilir. Bu çalışmada, üçüncü basamak bir sağlık merkezinde anoftalmi tanısı almış hastaların klinik özellikleri ve eşlik eden sistemik anomalilerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Ocak 2005 ile Temmuz 2025 tarihleri arasında Dokuz Eylül Üniversitesi Hastanesi Göz Hastalıkları Anabilim Dalı'nda unilateral veya bilateral anoftalmi tanısı alan hastaların geriye dönük dosya taraması yapıldı. Demografik veriler, ayrıntılı oküler bulgular ve sistemik değerlendirmeler analiz edildi. Bulgular: Çalışmaya toplam 15 hasta dahil edildi. İlk muayene sırasında hastaların ortalama yaşı 1,84 ± 2,94 yıl olarak belirlendi. Dokuz hastada unilateral, altı hastada ise bilateral anoftalmi saptandı. Değerlendirilen 15 hastanın 11’inde (%73,3) sistemik anomali tespit edildi. Dört hastada (%26,6) CHARGE sendromu, Goldenhar sendromu ve Fryns sendromunu içeren sendromik tanı mevcuttu. Sendromik olmayan hastalarda toplam 39 sistemik anomali belirlendi: konjenital kalp defektleri (n = 10), kraniofasiyal anomaliler (n = 10), santral sinir sistemi anomalileri (n = 8), kas-iskelet sistemi anomalileri (n = 4), genitoüriner anomaliler (n = 2), gastrointestinal ve abdominal duvar anomalileri (n = 2) ve solunum sistemi anomalileri (n = 3). Dikkat çekici şekilde, altı hastada (%40) akraba evliliği öyküsü mevcuttu. Sonuç: Özellikle bilateral olgularda ve sendromik özellikler gösteren hastalarda eşlik eden sistemik anomalilerin sıklığı, anoftalmi tanısı alan hastalarda kapsamlı ve multidisipliner bir değerlendirme sürecinin gerekliliğini ortaya koymaktadır. Yaşamı tehdit edebilecek veya gelişimi etkileyebilecek anomalilerin erken tanılanması, prognoz ve tedavi sürecini önemli ölçüde etkileyebilir. Bu nedenle, nörogörüntüleme, sistemik tarama ve genetik danışmanlık bu hastaların tanısal değerlendirme sürecinin rutin bir parçası olmalıdır.

Keywords

• Anoftalmi
• Konjenital oküler malformasyon
• Sistemik anomaliler
• Sendromik tanı
• Nörogörüntüleme
• Akraba evliliği

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