Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2005 Apr 30;46(2):296-9.
doi: 10.3349/ymj.2005.46.2.296.

Bilateral congenital anophthalmos and agenesis of the optic pathways

Mustafa Aktekin  1 , Ozay Oz, Muaffak Refik Saygili, Zeliha Kurtoğlu
Affiliations
Case Reports

Bilateral congenital anophthalmos and agenesis of the optic pathways

Mustafa Aktekin et al. Yonsei Med J. .

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.

PubMed Disclaimer

Figures

Fig. 1
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.
Fig. 2
Fig. 2
Inversion recovery sequence shows the enlarged ventricles and an absence of the optic radiations (arrow).
Fig. 3
Fig. 3
Midsagittal T1-weighted MR image shows an absence of the optic chiasm (arrow) and a normal corpus callosum.
Fig. 4
Fig. 4
Coronal T1-weighted MR image shows an absence of the optic chiasm (arrow).
See this image and copyright information in PMC

References

    1. BenEzra D, Sela M, Peer J. Bilateral anophthalmia and unilateral microphthalmia in two siblings. Ophthalmologica. 1989;198:140–144. - PubMed
    1. Albernaz SA, Castillo M, Hudgins PA, Mukherji SK. Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. 1997;18:112–113. - PMC - PubMed
    1. Brunquell PJ, Papale JH, Horton JC, Williams RS, Zgrabik MJ, Albert DM, et al. Sex-linked hereditary bilateral anophthalmos. Arch Ophthalmol. 1984;102:108–113. - PubMed
    1. Marcus DM, Shore JW, Albert DM. Anophthalmia in the focal dermal hypoplasia syndrome. Arch Ophthalmol. 1990;108:96–100. - PubMed
    1. Sener RN. Cranial MR imaging findings in Waardenburg syndrome: anophthalmia, and hypothalamic hamartoma. Comput Med Imaging Graph. 1998;22:409–411. - PubMed

Publication types