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." |
Joseph L. Demer, M.D., Ph.D. presented the annual David R. Stager, Sr. Lecture in Pediatric Ophthalmology & Adult Strabismus on February 2, 2009. Dr. Demer is the Leonard Apt Professor of Ophthalmology and Neurology, Director of the Ocular Motility Clinical Laboratory, and Chief of Comprehensive Ophthalmology Division at the Jules Stein Eye Institute at the University of California Los Angeles. He has received many awards and honors, including the 2003 ARVO Friedenwald Award, the Walt and Lily Disney Award for Amblyopia Research, and the Alcon Achievement Award. His lecture, entitled "Connective Tissue Surgery for Strabismus in the Young and the Old", provided a fascinating overview of his recent studies of orbital mechanics with magnetic resonance imaging. He presented evidence that much of the eye's kinematics, once thought to require brainstem coordination of eye muscle innervations, is determined by the orbital biomechanics of rectus muscle pulleys. Dr. Demer also addressed the clinical implications of his research. In particular, this new information on orbital pulley mechanics provides a new direction for surgical treatment of strabismus and the design of interventions that may be able to effect more subtle changes in muscle action than those currently available.