Yonsei Med J.  2005 Apr;46(2):296-299. 10.3349/ymj.2005.46.2.296.

Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways

• Aktekin M
• Oz O
• Saygili MR
• Kurtoglu Z

• KMID: 1734059
• DOI: http://doi.org/10.3349/ymj.2005.46.2.296

Abstract

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 optic pathways, no etiologic reason for this pathology could be detected, which makes this case more significant.

Keyword

Bilateral anophthalmos; optic pathways; agenesis; MRI

MeSH Terms

Abnormalities, Multiple/diagnosis
Adult
Anophthalmos/*complications
Female
Humans
Magnetic Resonance Imaging
Mental Retardation/complications
Optic Chiasm/abnormalities
Optic Nerve/abnormalities
Visual Pathways/*abnormalities/pathology

Figure

• 

  Fig. 1 Axial T1-weighted MR image shows bilateral fibrotic eye bulbs in both orbits (arrow). The rudimental medial and lateral recti are medially displaced (arrow head). Minimal enlargement of the lateral ventricles but no hypotense signal changes of the optic radiation can be observed.

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  Fig. 2 Inversion recovery sequence shows the enlarged ventricles and an absence of the optic radiations (arrow).

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  Fig. 3 Midsagittal T1-weighted MR image shows an absence of the optic chiasm (arrow) and a normal corpus callosum.

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  Fig. 4 Coronal T1-weighted MR image shows an absence of the optic chiasm (arrow).

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