Project 3000 - RFSW Seeks to Identify Patients in Texas and the Southwest with LCA With the possibility that gene therapy based treatments for LCA will be available in the near future, the Retina Foundation is seeking to identify persons in Texas and the Southwest affected with this rare congenital disorder. This effort is part of a nationwide initiative, Project 3000, to identify everyone in the United States with LCA - estimated to be approximately 3000 people.

The diagnosis of LCA relies on molecular testing and the assessment of vision, specifically, retinal function. The electroretinogram (ERG) is an essential tool for determining how well the retina is functioning. "Since RFSW is one of only a few centers in the Southwest with this sensitive testing capability, we are uniquely poised to enhance local efforts to identify patients," said Dr. David Birch, Director of the Rose- Silverthorne Retinal Degenerations Laboratory.

"Our goal, at RFSW, is to raise awareness of LCA and facilitate identification of affected individuals by offering free visual evaluations, genetic counseling and genetic testing," said Dianna Wheaton, Genetic Counselor at the Retina Foundation.

It is thought that the genes causing approximately 1/3 of LCA cases still remain to be discovered. Thus, an additional goal is to use the genetic information gathered from patients with LCA to find the remaining genes.

If you have any questions about LCA and genetic testing at the RFSW, please contact Dianna Wheaton at 214-363-3911 x134 or dwheaton@retinafoundation.org

Jill and Jonathon Smith are the parents of Allison (5 years of age) and Matthew (9 months), both of whom have LCA. Born in 2002, Allison appeared to be the picture of health. Soon, though, her parents sensed that something was wrong with her eyes.

"By the time Allison was 2 months old, we were noticing that things were just not right with her vision even though her pediatrician said her eyes appeared normal," explained Jill. When

Allison was 4 months old, her pediatrician agreed with the Smiths that something was wrong and sent Allison to an ophthalmologist, who initially diagnosed her as having cortical blindness. But the Smiths felt that Allison could see a little so they persisted in their quest to find out what exactly was wrong with her. Finally a neurophthalmologist at Children's Medical Center referred Allison to the Retina Foundation for testing that identified LCA.

Today Allison is a bright and thriving 5 year old. Although her vision is severely restricted (she sees only light and shadow), she can tell when someone is in the room. Her mother says, "Allison is very outgoing and talkative, and loves to chat with people. When we brought Matthew into the Retina Foundation to be tested, Allison had lots of questions about LCA and her brother. The researchers were very patient and answered all of her questions."

Allison currently attends a special school that is part of the Early Childhood Intervention Program in the Arlington Independent School District. She can already read Braille and started kindergarten in August. The Smith family is following the development of the new gene therapies for LCA very closely and hopes that soon "researchers will find a way to help both children have more vision."