About the disease - Leber's Congenital Amaurosis (LCA) - CRX

Leber congenital amaurosis (LCA) is a term applied collectively to a group of rare inherited retinal degenerative diseases and is characterized by severe loss of vision at birth.  More simply stated, scientist have identified multiple genes mutations that affect the retina or the part of the eye that detects light and color.  Children affected are often legally blind at birth and may have other symptoms that may include involuntary movements, crossed eyes, clouding of the lenses, unusual sensitivity to light and/or cone shape to the front of the eye.  The LCA group contains almost 30 known gene mutations which account for a majority cases of LCA.  In some cases, the gene mutation responsible for LCA diagnosis is unknown.  The prevalence of LCA is considered rare as the disease only occurs in one or two births per 100,000 births.

 

One of the gene mutations is designated as CRX or LCA-CRX.  The CRX gene provides the instructions to make the cone-rod homeobox protein.  Essentially, this protein is located in the retina and helps photoreceptors mature into cells that are capable of detecting color and light.   

Research of LCA-CRX

Progress continues to be made in the research for a cure of LCA, but there is no treatment for LCA-CRX.

There has been a recent approval of one product to treat the LCA-RPE65 gene.  Children with LCA-RPE65 that have been treated show a significantly improvement in their vision.  This product can not be used to treat LCA-CRX, but it is first FDA-approved prescription gene therapy for patients with Inherited Retinal Disease. 

 

The LCA-CEP290 gene has had two promising treatments emerge recently.  One is currently in clinical trials and the other has been FDA approved to start their clinical trial.

CRX Specific   

It is our hope that the LCA-CRX gene will follow the path of the previously mentioned genes.  Supporting the doctors and research focusing on the CRX gene is a means to make this happen.

CRX researchers (Click on doctor for more information):

Dr. Deepak Lamba - University of California, San Francisco

Dr. Shiming Chen - Washington University in St. Louis

ABOUT US 

Drew’s Beacon for Blindness, a non-profit 501(c)(3) organization funds research with the hope of identifying a cure for LCA-CRX blindness.

Joseph Cardullo

T: 215-528-1056

E: jcardullo@drewsbeacon.org

Monica Picinich

T: 215-605-5926

E: mpicinich@drewsbeacon.org