Scheie Eye Institute | 51 North 39th Street | Philadelphia, PA 19104 | July 30, 2020
SUMMARY
"Inherited retinal diseases (IRDs) refer to a heterogenous group of conditions where 300+ distinct single-gene defects act on rod or cone photoreceptors to cause vision loss. Worldwide prevalence of IRDs are thought to be 1 in 1000. One of the most common IRDs is autosomal dominant retinitis pigmentosa (adRP) caused by Rhodopsin (RHO) mutations. RHO is expressed in rod photoreceptors which provide us with night vision. Many aspects of the human RHO-associated adRP has been described by our group over the last 3 decades.
"We have also investigated naturally occurring dogs, and genetically engineered pigs, rats, and mice with RHO mutations."
"Our earlier work concentrated on understanding of disease phenotype, progression, and interaction with light. More recently we have directed our attention to gene-based treatments and outcome measures to be used in clinical trials."
Scheie Eye Institute 51 North 39th Street Philadelphia, PA 19104