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...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.展开更多
文摘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.
