Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging

Core Tip

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.