Detection of a congenital cystic eyeball by prenatal ultrasound in a newborn with turner's syndrome

Antenatal sonographic appearance of a large orbital encephalocele: A case report and differential diagnosis of orbital cystic mass

“…Kavanagh et al reported a case of congenital cystic eyeball in a patient with a 45,XO karyotype whose US features bear similarity with our case, but the histopathologic examination revealed areas of choroidal and retinal pigment epithelial tissue and primitive tissue resembling retina …”

“…23 Kavanagh et al reported a case of congenital cystic eyeball in a patient with a 45,XO karyotype whose US features bear similarity with our case, but the histopathologic examination revealed areas of choroidal and retinal pigment epithelial tissue and primitive tissue resembling retina. 24 A cystic intraorbital encephalocele was seen in the orbit posterior to a microphthalmos in two cases of Aicardi syndrome. 25,26 Postnatal MRI revealed a CSF-like signal of the cysts.…”

Congenital cystic eye with optic nerve

“…The condition is not hereditary and insults during pregnancy and childbirth do not appear to be precursors. Unlike microphthalmos and anophthalmos, there is no known associated chromosomal abnormality; however, one case associated with Turner syndrome and one associated with Orbeli syndrome (13q deletion syndrome) has been reported 5 7…”

“…A summary of all the cases reporting an optic stalk or rudimentary optic nerve is provided in table 1. In the literature, there were 11 cases reporting congenital cysts associated with optic nerve tissue and only 4 of these described optic nerve histology 5 9 12 14. Sacks and Lindenberg reported a case of bilateral cystic eye in which the intracranial portion of one optic nerve was a tubular remnant of the optic stalk and the other contained only efferent nerve fibres.…”

“…Detection and analysis of vestigial optic nerve structures in previous reports have been based on neuroimaging alone with histopathological analysis rarely reported 5 9 10. Immunohistochemistry of optic nerve structures associated with congenital cystic eyes has not previously been reported.…”