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 52 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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Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
 

Author(s): K F Schilter, L M Reis, A Schneider, T M Bardakjian, O Abdul-Rahman, B A Kozel, H H Zimmerman, U Broeckel, E V Semina

Journal: Clin. Genet.. 2013 Nov;84(5):473-81.

 

Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole-genome copy number variation analysis in 60 patients affected with isolated or syndromic A/M. Pathogenic ...

Last Updated: 17 Oct 2013

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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
 

Author(s): Mani Yahyavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao, Tanya Bardakjian, Adele Schneider, Alex Choi, Eric Jorgenson, Herwig Baier, Mohamad El Sada, Daniel F Schorderet, Anne M Slavotinek

Journal: Hum. Mol. Genet.. 2013 Aug;22(16):3250-8.

 

The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia ...

Last Updated: 26 Jul 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 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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