Rare Disease 10 - Leber's Congenital Amaurosis

From Wikipedia:

Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population.  The term congenital refers to a condition present from birth (not acquired) and Amaurosis refers to a loss of vision not associated with a lesion. However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes.

Here is one story about a 3 year old patient with LCA.  The parents documented his improvement with therapy and assistance.

Those affected are considered legally blind and therefore are able to work with the Associations for the Blind and obtain guide dogs and other resources available.

The inspiration for this disease was an entry on the Rare Disease Day US Facebook page from Wednesday, February 6, 2013:
Mitchell is blind from CRB1-LCA, a degenerative retinal disease. One of Mitchell's favorite places is the beach... any beach! He loves to compare the beaches of different coasts - he notes the differences in sand textures, water temperatures, waves, etc. The Curing Retinal Blindness Foundation is funding research for Mitchell's CRB1 gene so that one day Mitchell will SEE all the differences in the beaches, he'll SEE the boats on the water, and SEE the sand structures he builds!

The Curing Retinal Blindness Foundation can be found here.

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LCA is just one of 7,000 rare diseases, most without cures and very few treatments.  Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.

Rare Disease Day is February 28, 2013.