Causes and Treatments Dr. Sieving's program combines clinical and basic laboratory approaches elucidating the disease mechanisms of, and devising treatments for, inherited retinal dystrophies. These conditions cause substantial vision impairment in both young and old.
Central vision is impaired in juvenile and in age-related macular degeneration.
At present these conditions are mostly not treatable. One promising research strategy involves identifying gene mutations that cause the retinal degeneration and then studying these genetic defects in animal models while attempting to devise pharmacological treatments. We use molecular genetic techniques for gene mapping and cloning and to screen patient blood samples for gene mutations. Dr. Sieving's collection of human RP pedigrees is one of the largest in the world. In certain families, RP mutations have been identified in the rhodopsin gene and are already being analyzed.