Art is Her Best Friend

Yvonne is living her dream. She is an artist, dedicated to raising awareness and funds for vision research.

Meet Molly Burke, FFB Youth Ambassador

Youth Ambassador

Molly Burke is a youth ambassador for the FFB, educating the public about living with blindness while delivering a message of hope to those living with vision impairment.

Meet Norma Bastidas, mom on a mission

Mom on a Mission

Norma is the second person in history to run 7 of the planet's most unforgiving environments on 7 continents in 1 year in support of vision research. Read her about incredible journey.

Meet Dale Turner, proof that research does work

Miracles do happen

Dale Turner is the first Canadian to receive an experimental treatment and have some sight restored by gene therapy. Dale is proof that investing in research works.

Molecular Studies of Leber Congenital Amaurosis: A Childhood Blindness and a Model for Retinal Development

Robert K. Koenekoop, M.D., Ph.D.
Department of Ophthalmology
McGill University/Montreal Children's Hospital, Montreal, Quebec

Leber congenital amaurosis (LCA) is a retinal disease that causes childhood blindness in three out of 100,000 people. It is defined as a congenital form of retinitis pigmentosa with severe visual loss at birth, nystagmus (eyes that shake involuntarily), a pigmentary retinopathy (pigmented clumps on the retina), autosomal recessive inheritance and non-detectable electroretinogram (ERG).

Studying LCA improves our understanding of the normal functioning of the human retina and related retinal degenerations. LCA can be caused by 10 different genes (eight of which are known), each with a different function in the retina. We have been able to establish the defective gene in 30 out of 100 LCA patients so far, while screening for mutations.

We found three types of disease progression: 1. stable, 2. Deterioration, and 3. Improvement.

We also found significant ERG abnormalities in some LCA parents. We have collected and established the phenotype (clinical description) of more than 300 LCA patients. Our goals are to:

  1. Screen the eight known LCA genes and two LCA candidate genes for mutations in a group of 300 LCA patients, and one large family,

  2. Correlate genotype to phenotype, and

  3. Perform expression studies of selected LCA mutation.
Because LCA may soon become treatable, separating patients that can be treated from those that cannot yet be treated, based on molecular analysis, will be a major outcome of this project. This study has the potential to contribute to the understanding of fundamental mechanisms of disease processes and may contribute to their cure.

 

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