Aland Island Eye Disease

Common Name(s)

Aland Island Eye Disease

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aland Island Eye Disease" 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 "Aland Island Eye Disease" returned 5 free, full-text research articles on human participants. First 3 results:

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
 

Author(s): Ajoy Vincent, Tom Wright, Megan A Day, Carol A Westall, Elise Héon

Journal: Mol. Vis.. 2011 ;17():3262-70.

 

To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and Åland island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene ...

Last Updated: 31 Dec 1969

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Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
 

Author(s): N R Hawksworth, S Headland, P Good, N S Thomas, A Clarke

Journal: Br J Ophthalmol. 1995 May;79(5):424-30.

 

Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with manifestation in some female carriers. In this family, affected males demonstrate myopia, ...

Last Updated: 31 Dec 1969

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Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
 

Author(s): I A Glass, P Good, M P Coleman, P Fullwood, M G Giles, S Lindsay, A H Nemeth, K E Davies, H A Willshaw, A Fielder

Journal: J. Med. Genet.. 1993 Dec;30(12):1044-50.

 

A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Aland Island Eye Disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.