Snowflake vitreoretinal degeneration

Common Name(s)

Snowflake vitreoretinal degeneration

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Snowflake vitreoretinal degeneration" 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 "Snowflake vitreoretinal degeneration" returned 2 free, full-text research articles on human participants. First 3 results:

Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
 

Author(s): Bikash R Pattnaik, Sara Tokarz, Matti P Asuma, Tyler Schroeder, Anil Sharma, Julie C Mitchell, Albert O Edwards, De-Ann M Pillers

Journal:

 

Snowflake Vitreoretinal Degeneration (SVD) is associated with the R162W mutation of the Kir7.1 inwardly-rectifying potassium channel. Kir7.1 is found at the apical membrane of Retinal Pigment Epithelial (RPE) cells, adjacent to the photoreceptor neurons. The SVD phenotype ranges from ...

Last Updated: 31 Dec 1969

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Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
 

Author(s): J Fielding Hejtmancik, Xiaodong Jiao, Anren Li, Yuri V Sergeev, Xiaoyan Ding, Anil K Sharma, Chi-Chao Chan, Igor Medina, Albert O Edwards

Journal: Am. J. Hum. Genet.. 2008 Jan;82(1):174-80.

 

Snowflake vitreoretinal degeneration (SVD, MIM 193230) is a developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline ...

Last Updated: 31 Dec 1969

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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 "Snowflake vitreoretinal degeneration" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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