Corey Haas, age 8, of Hadley, New York.LCA2 patient

What can we do about LCA2?What do we need to know first?

Dataset 1: A family history

Genetic? Infectious? Environmental?

Dataset 2: Eye physiologyAffected and unaffected individuals

Clarity measurements

Latency and amplitude of nerve transmission

Dataset 3: Molecular information

Affected and unaffected individuals

Measurements of rhodopsin, cis-retinal, trans-retinal, Na+ concentration, mitochondria and DNA amounts

Retinal

lightChange in [Na+] sends a signal down the optic nerve

cis-retinal

trans-retinal

lightChange in [Na+] sends a signal down the optic nerve

RPE65

lightChange in [Na+] sends a signal down the optic nerve

RPE65

LCA2!

lightChange in [Na+] sends a signal down the optic nerve

RPE65

LCA2!

Can we replace the defective RPE65 gene with a functional gene?

Corey HaasAfter RPE65 gene therapy on one eye