The Edward C. Fogg, III and Lisbeth A. Fogg Charitable Trust renewed their support for our Texas 1000 Project to identify and genotype 1,000 new patients with retinal degenerative diseases. Since starting this project at the Retina Foundation of the Southwest, a total of 500 patients plus nearly 200 at-risk relatives have been enrolled in the Texas 1000 Project to have had their genetic mutations identified through next generation sequencing (NGS). The detection rate for mutation identification is approximately 70%, which is in line with other state-of-the-art detection rates.
We are increasing our impact by forging a network of collaborators in Fort Worth, San Antonio, Houston, Austin, Lubbock, and Amarillo in addition to our 20 referring retinal specialists in the Dallas area. These collaborators throughout Texas are encouraging their patients with genetic eye disease to contact the Retina Foundation of the Southwest and schedule an appointment for genetic sequencing and genetic counseling (some in Spanish). We provide all services to families free of charge.
Fogg Charitable Trust’s generous year-end grant will also fund a new collaborative project with a Dr. Adda Villanueva, a retinal specialist focused on inherited retinal degenerations in Yucatan, Mexico. We will genotype families with autosomal dominant retinitis pigmentosa to determine the prevalence of a newly discovered gene with mutations responsible for retinitis pigmentosa in several Hispanic families in Texas. The first symptom of retinitis pigmentosa is difficulty in seeing in the dark or in dim lighting due to the degeneration of rod photoreceptors. Loss of night-vision is followed by a progressive loss of peripheral vision which leads to increasing tunnel vision, legal blindness and, eventually, total blindness. At present there is no known cure for this devastating genetic disease.