|
Research
Summary
Pediatric
Ophthalmology
The research program at the Pediatric Ophthalmology unit is primarily
focusing on two different areas of pediatric ophthalmology: congenital
esotropia and genetic evaluation of visual impairment in infants. |
|
Congentital
Strabismus.
Investigations are now underway to see whether motion abnormality
associated with early forms of childhood strabismus is part of the
underlying pathophysiology or only a secondary phenomenon. We are
specifically investigating whether early intervention in the management
of congenital strabismus can prevent these alterations in motion asymmetry.
This is part of an on-going research project over the past 10 years,
which was initiated by my observation that vestibulo-ocular responses
in a lighted room appeared to be asymmetric in their intensity in
the patient with congenital strabismus. Our results to date suggest
that some motion sensitive mechanisms in the visual cortex require
a critical amount of binocular interaction early in life and that
the vulnerability of these mechnisms to disruption decreases significantly
after age two.
Congenital Esotropia.
We are continuing evaluations of congenital esotropia, when eyes turn
inward at birth. This is done both by an analysis of the motion abnormality
seen in patients with congenital strabismus, in which the patient's
eyes are not straight; as well as by modeling the strabismus seen
in patients with underlying central nervous system pathology.
Genetic Evaluation.
We are using new genetic techniques to evaluate various types of visual
impairment in infancy. The first study underway is a program evaluating
Leber's congenital amaurosis (LCA), which is a congenital, degenerative
cone-rod dystrophy that causes severe visual impairment at birth.
In this collaborative study (with Douglas Fredrick, MD, and with the
pediatric ophthalmology clinics at the Universities of Cincinnati,
Iowa and British Columbia, and the Hospital for Sick Children in London)
we coordinate the study at UCSF and provide clinical evaluation of
patients. The goal is to match clinical phenotypes with specific genetic
abnormalities in a group of heterogeneous disorders.
We are also using genetic techniques in an evaluation of children
with optic nerve hypoplasia, which causes significant vision impairment
due to underdevelopment of the optic nerve. The study is designed
to see whether these children have the same mutation defect that has
been found in experimental animals (by David W. Sretavan, MD, PhD).
This promises to bring new understanding to the genetic control of
the developing anterior visual pathway.
Obviously, the investigations of genetic disorders in children will
be benefitted greatly by the molecular biology module, as well as
by the transgenic module. |
| |
|
