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 49 free, full-text research articles on human participants. First 3 results:

[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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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
 

Author(s): Lucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, Jill Clayton-Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gérard, Clarisse Baumann, Ghislaine Plessis, Bénédicte Demeer, Lionel Brétillon, Christine Bole, Patrick Nitschke, Arnold Munnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean-Michel Rozet

Journal: Am. J. Hum. Genet.. 2013 Feb;92(2):265-70.

 

Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia ...

Last Updated: 11 Feb 2013

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RAX and anophthalmia in humans: evidence of brain anomalies.
 

Author(s): Hana Abouzeid, Mohamed A Youssef, Nader Bayoumi, Nihal ElShakankiri, Iman Marzouk, Philippe Hauser, Daniel F Schorderet

Journal: Mol. Vis.. 2012 ;18():1449-56.

 

To report the clinical and genetic study of two families of Egyptian origin with clinical anophthalmia. To further determine the role of the retina and anterior neural fold homeobox gene (RAX) in anophthalmia and associated cerebral malformations.

Last Updated: 27 Jun 2012

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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 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: 23 Feb 2014

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