Anophthalmia

Common Name(s)

Anophthalmia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Anophthalmia" for support, advocacy or research.

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International Children's Anophthalmia Network

The International Children's Anophthalmia & Micropthalmia Network (ican), a voluntary not-for-profit organization, is a group of families and professionals dedicated to lending support to individuals who want to learn more about microphthalmia and anophthalmia (eyes that are abnormally small, completely absent, or consist only of vestigial portions).

Last Updated: 24 Nov 2009

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Anophthalmia" for support, advocacy or research.

Logo
International Children's Anophthalmia Network

The International Children's Anophthalmia & Micropthalmia Network (ican), a voluntary not-for-profit organization, is a group of families and professionals dedicated to lending support to individuals who want to learn more about microphthalmia and anophthalmia (eyes that are abnormally small, completely absent, or consist only of vestigial portions).

http://www.anophthalmia.org

Last Updated: 24 Nov 2009

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Anophthalmia" returned 55 free, full-text research articles on human participants. First 3 results:

Neurochemical changes in the pericalcarine cortex in congenital blindness attributable to bilateral anophthalmia.
 

Author(s): Gaelle S L Coullon, Uzay E Emir, Ione Fine, Kate E Watkins, Holly Bridge

Journal: J. Neurophysiol.. 2015 Sep;114(3):1725-33.

 

Congenital blindness leads to large-scale functional and structural reorganization in the occipital cortex, but relatively little is known about the neurochemical changes underlying this cross-modal plasticity. To investigate the effect of complete and early visual deafferentation ...

Last Updated: 16 Sep 2015

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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
 

Author(s): A M Slavotinek, S T Garcia, G Chandratillake, T Bardakjian, E Ullah, D Wu, K Umeda, R Lao, P L-F Tang, E Wan, L Madireddy, S Lyalina, B A Mendelsohn, S Dugan, J Tirch, R Tischler, J Harris, M J Clark, S Chervitz, A Patwardhan, J M West, P Ursell, A de Alba Campomanes, A Schneider, P-Y Kwok, S Baranzini, R O Chen

Journal: Clin. Genet.. 2015 Nov;88(5):468-73.

 

Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with ...

Last Updated: 8 Oct 2015

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[Bilateral anophthalmia in Fraser syndrome: report of a case].
 

Author(s): Zouheir Hafidi, Rajae Daoudi

Journal:

 

Last Updated: 22 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Anophthalmia" returned 2 free, full-text review articles on human participants. First 3 results:

Anophthalmia and microphthalmia.
 

Author(s): Amit S Verma, David R Fitzpatrick

Journal:

 

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution ...

Last Updated: 19 Feb 2008

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A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.
 

Author(s): J Elliott, E L Maltby, B Reynolds

Journal: J. Med. Genet.. 1993 Mar;30(3):251-2.

 

An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, ...

Last Updated: 20 May 1993

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Autologous Fat Grafting With PRP (Platelet Rich Plasma) to Anophthalmic Sockets
 

Status: Recruiting

Condition Summary: Orbital Atrophy

 

Last Updated: 10 Feb 2016

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