Microphthalmia

Common Name(s)

Microphthalmia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Microphthalmia" returned 136 free, full-text research articles on human participants. First 3 results:

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
 

Author(s): Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie-Pierre Cordier, José-Mario Capo-Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F Hamdan, Guy A Rouleau, André Tremblay, Jacques L Michaud

Journal: Am. J. Hum. Genet.. 2013 Oct;93(4):765-72.

 

Anophthalmia and/or microphthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac defects are the main features of PDAC syndrome. Recessive mutations in STRA6, encoding a membrane receptor for the retinol-binding protein, have been identified in some cases with PDAC syndrome, ...

Last Updated: 7 Oct 2013

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An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.
 

Author(s): Carlos Pantoja-Melendez, Manir Ali, Juan C Zenteno

Journal:

 

To investigate the molecular epidemiological basis for the unusually high incidence of sclerocornea, aphakia, and microphthalmia in a village in the Tlaxcala province of central Mexico.

Last Updated: 10 Sep 2013

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Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
 

Author(s): Fatema Zahrani, Mohammed A Aldahmesh, Muneera J Alshammari, Selwa A F Al-Hazzaa, Fowzan S Alkuraya

Journal: Am. J. Hum. Genet.. 2013 Mar;92(3):387-91.

 

Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a minority of cases. We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous ...

Last Updated: 11 Mar 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 "Microphthalmia" returned 4 free, full-text review articles on human participants. First 3 results:

The discovery of the microphthalmia locus and its gene, Mitf.
 

Author(s): Heinz Arnheiter

Journal: Pigment Cell Melanoma Res. 2010 Dec;23(6):729-35.

 

The history of the discovery of the microphthalmia locus and its gene, now called Mitf, is a testament to the triumph of serendipity. Although the first microphthalmia mutation was discovered among the descendants of a mouse that was irradiated for the purpose of mutagenesis, the ...

Last Updated: 26 Oct 2010

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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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Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation.
 

Author(s): S Shibahara, K Takeda, K Yasumoto, T Udono, K Watanabe, H Saito, K Takahashi

Journal: J. Investig. Dermatol. Symp. Proc.. 2001 Nov;6(1):99-104.

 

Microphthalmia-associated transcription factor (MITF) regulates the differentiation and development of melanocytes and retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the MITF gene ...

Last Updated: 14 Dec 2001

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Selected X-Linked Disorders: Aicardi Syndrome
 

Status: Recruiting

Condition Summary: Aicardi Syndrome; Brain Disorders

 

Last Updated: 23 Jun 2011

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