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* Anophthalmia - clinical description for the absence of an eye. Gene mutation of SOX2, a developmental transcription factor, has been associated with this condition.
* Anophthalmia - clinical description for the absence of an eye. Gene mutation of SOX2, a developmental transcription factor, has been associated with this condition.


{|
|-bgcolor="FFCC00"
! {{ICD-11}}
|-bgcolor="FEF9E7"
| {{ICD11weblink}}614784200 LA10.1 Clinical anophthalmos] - ''This refers to the clinical absence of one or both eyes. Both the globe (human eye) and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities.''
|}


:'''Links:''' [[:File:Anophthalmia and microphthalmia.jpg|Anophthalmia and microphthalmia]] | [[:File:Anophthalmia.jpg|Anophthalmia]] | [[:File:Microphthalmia.jpg|Microphthalmia]] | [[Sensory - Vision Abnormalities]]
 
<br>
:'''Links:''' {{Anophthalmia}} | {{Microphthalmia}} | [[:File:Anophthalmia and microphthalmia.jpg|Image - Anophthalmia and microphthalmia]] | [[:File:Anophthalmia.jpg|Image - Anophthalmia]] | [[:File:Microphthalmia.jpg|Image - Microphthalmia]] | [[Sensory - Vision Abnormalities]]


===Reference===
===Reference===
<pubmed>18039390</pubmed>| [http://www.ojrd.com/content/2/1/47 Orphanet Journal of Rare Diseases]
{{#pmid:18039390}}
 


====Copyright====
====Copyright====

Latest revision as of 14:53, 11 April 2019

Anophthalmia

Clinical appearance of anophthalmia.

  • Anophthalmia - clinical description for the absence of an eye. Gene mutation of SOX2, a developmental transcription factor, has been associated with this condition.
 ICD-11
LA10.1 Clinical anophthalmos - This refers to the clinical absence of one or both eyes. Both the globe (human eye) and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities.



Links: anophthalmia | microphthalmia | Image - Anophthalmia and microphthalmia | Image - Anophthalmia | Image - Microphthalmia | Sensory - Vision Abnormalities

Reference

Verma AS & Fitzpatrick DR. (2007). Anophthalmia and microphthalmia. Orphanet J Rare Dis , 2, 47. PMID: 18039390 DOI.


Copyright

© 2007 Verma and FitzPatrick; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Original file name: 1750-1172-2-47-1.jpg Image panel cropped, relabelled, and resized from original figure.


Cite this page: Hill, M.A. (2024, March 29) Embryology Anophthalmia.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Anophthalmia.jpg

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G

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