Anophthalmos. A Case Report

Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways

This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm, optic tracts and optic radiation were absent. The chromosomal examination was normal. Mild mental retardation was also observed. Apart from the rarity of the anophthalmos and the total absence of the opti...

Sex - Linked Hereditary Bilateral Anophthalmos

rprue anophthalmos is a rare clinical *entity, and the diagnosis can only be made by histologie examination of the orbital contents. Cases with pathologic substantiation of both the intraorbital and the intracranial com¬ ponents of the visual system are still rare.13 We present herein the radiologic and postmortem follow-up in a case of an X-linked recessive form of anophthalmos originally repo...

Imaging findings in patients with clinical anophthalmos.

PURPOSE To review the intracranial and facial imaging features in children with congenital anophthalmos. METHODS We retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain). RESULTS Three patients had...

Anophthalmia with cleft palate and micrognathia: a new syndrome?

A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cy...

A Case of Congenital Bilateral Anophthalmia