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

Year 2026, Volume: 10 Issue: 1, 104 - 110, 31.01.2026

Özlem Ural Fatihoğlu , Sercan Takıl , Barbaros Hayrettin Ünlü , Meryem Altın Ekin , Taylan Öztürk , Aylin Yaman , Ayşe Tülin Berk

https://doi.org/10.30621/jbachs.1789783

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

References

• Russo M, Palmeri S, Zucconi A, Vagge A, Arioni C. Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review. Ital J Pediatr. 2025;51(1):65.
• Ragge NK, Subak-Sharpe ID, Collin JR. A practical guide to the management of anophthalmia and microphthalmia. Eye (Lond). 2007;21(10):1290-300.
• Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007;2:47.
• Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, et al. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. JAMA Ophthalmol. 2013;131(12):1517-24.
• Schittkowski MP, Guthoff RF. Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients. Br J Ophthalmol. 2010;94(4):487-93.
• Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, et al. Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. Ophthalmology. 2012;119(2):362-8.
• Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, et al. Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life. Ophthalmic Genet. 2022;43(2):172-83.
• Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000;26(3):365-9.
• Harding P, Moosajee M. The Molecular Basis of Human Anophthalmia and Microphthalmia. J Dev Biol. 2019;7(3).
• Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al. CHARGE syndrome: a review. J Paediatr Child Health. 2014;50(7):504-11.
• Sinn R, Wittbrodt J. An eye on eye development. Mechanisms of Development. 2013;130(6):347-58.
• Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet. 2002;39(1):16-22.
• Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A. 2006;140(16):1711-8.
• Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genetics. 1994;7(4):463-71.
• Khan AO. Ocular genetic disease in the Middle East. Curr Opin Ophthalmol. 2013;24(5):369-78.
• Bronshtein M, Zimmer E, Gershoni-Baruch R, Yoffe N, Meyer H, Blumenfeld Z. First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases. Obstet Gynecol. 1991;77(3):443-9.