Hola saludos dede Ecuador!!

Giuliana Guerra, Guiliana tiene 3 anios de edad padece de Amaurosis Congenita de Leber.

Aun la mutacion genetica esta en proceso de identificaci Giuliana Guerra ademas tambien le diagnosticaron Sindrome de Asperger.  !!!

 

Global Genes Translation:

Greetings from Ecuador!!

Giuliana is three years old and suffers from Leber congenital amaurosis.

Even the genetic mutation is in the process of identification.  Guiliana was also diagnosed with Asperger Syndrome.

Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease which at birth, causes severe loss of vision.

 

Editor’s Notes:  LCA is rare and can also be associated with central nervous system complications, although with unknown frequency.  The Foundation for Retinal Research has an active community of individuals who suffer from LCA.  Starting July 20-22, 2012, their annual LCA Family Conference will be held in Pennsylvania.  They also offer national resources, such as genetic testing and support group information for their members and individuals looking for further guidance.

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