Re: New diagnosis of Ushers

[Monte Westerfield]

Dear Worriedgirl,

The vision loss in Usher syndrome is a form of retinitis pigmentosa.  

http://www.nlm.nih.gov/medlineplus/ency/article/001029.htm

The degree and speed of vision loss varies among individuals and is difficult to predict, but most Usher patients lose vision gradually over decades, becoming legally blind, and usually retaining a bit of central vision.  Both of our children have Usher 2 and the brother, younger by 5 years, has much worse vision than his older sister.  So, even within the same family, there can be significant differences.

I'm sure you and your family are having a difficult time adjusting to this new diagnosis.  You might appreciate the article that our 28 year old daughter recently wrote.  It starts on page 5 of the attached newsletter.

Best regards.

-Monte

 

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Monte Westerfield, Ph.D.

Professor of Biology

Director, Zebrafish International Resource Center

Director, ZFIN - the zebrafish model organism database

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Institute of Neuroscience

University of Oregon

Eugene, OR 97403-1254

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email: mo...@uoneuro.uoregon.edu

phone: +1-541-346-4607

fax: +1-541-346-4548

http://www.neuro.uoregon.edu/westerf/lab.html

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On Apr 2, 2010, at 1:27 PM, worriedgirl wrote:

Hello
My sister (mid 20's) has just been diagnosed with Usher's Syndrome.
She has been severely deaf from birth, he sight has been a bit poor
since an early age, but never anything that caused worry, just like
any normal person that would need to get glasses.  But recently my dad
arranged for a specialist check and she was diagnosed this week.  It
is very early days, we are still waiting for more information from the
specialist, but as i'm sure you will appreciate, our minds are running
away with us, and the worry of what lies ahead is very frightening.

From what i've read so far it looks like it may be type 2 Usher's.

I guess my main question is, will she definitely go blind?  and how
fast does the loss of vision tend to be?  could it be possible that
she will just suffer loss of peripheral vision and keep central vision
forever?
Any thoughts or experiences would be greatly appreciated, we just feel
so in the dark at the moment.
thank you