Case Report
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World J Radiol. Jul 28, 2014; 6(7): 515-518
Published online Jul 28, 2014. doi: 10.4329/wjr.v6.i7.515
Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging
Ali Riza Cenk Celebi, Hadi Sasani
Ali Riza Cenk Celebi, Ophthalmology Clinic, Republic of Turkey Ministry of Health, Nigde State Hospital, Nigde 51000, Turkey
Hadi Sasani, Department of Radiology, Florence Nightingale Hospital, Istanbul Bilim University, Istanbul 34394, Turkey
Author contributions: Celebi ARC prepared the manuscript; Sasani H edited the manuscript.
Correspondence to: Ali Riza Cenk Celebi, MD, Ophthalmology Clinic, Republic of Turkey Ministry of Health, Nigde State Hospital, Feridun Zeren Street, Nigde 51000, Turkey. arcenkcelebi@gmail.com
Telephone: +90-388-2210020 Fax: +90-388-2322220
Received: March 30, 2014
Revised: May 9, 2014
Accepted: June 18, 2014
Published online: July 28, 2014
Processing time: 122 Days and 13.3 Hours
Abstract

Anophthalmia is a condition of the absence of an eye and the presence of a small eye within the orbit. It is associated with many known syndromes. Clinical findings, as well as imaging modalities and genetic analysis, are important in making the diagnosis. Imaging modalities are crucial scanning methods. Cryptophthalmos, cyclopia, synophthalmia and congenital cystic eye should be considered in differential diagnoses. We report two clinical anophthalmic siblings, emphasizing the importance of neuroradiological and orbital imaging findings in distinguishing true congenital anophthalmia from clinical anophthalmia.

Keywords: Bilateral clinical anophthalmia; Neuroradiology; Magnetic resonance imaging; Siblings; Isolated

Core tip: Anophthalmia is a condition of the absence of an eye and the presence of a small eye within the orbit. Imaging modalities and genetic analysis are crucial for correct diagnosis and differential diagnosis. In this article, two clinical anophthalmic siblings cases are reported, emphasizing the importance of neuroradiological and orbital imaging findings in distinguishing true congenital anophthalmia from clinical anophthalmia. Anophthalmia is associated with many known syndromes. Clinical findings, as well as imaging modalities and genetic analysis, are important in making the diagnosis. Imaging modalities are crucial scanning methods. Cryptophthalmos, cyclopia, synophthalmia and congenital cystic eye should be considered in differential diagnoses. We report two clinical anophthalmic siblings, emphasizing the importance of neuroradiological and orbital imaging findings in distinguishing true congenital anophthalmia from clinical anophthalmia.