Corey Haas, age 8, of Hadley, New York. LCA2 patient.
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Transcript of Corey Haas, age 8, of Hadley, New York. LCA2 patient.
![Page 1: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/1.jpg)
Corey Haas, age 8, of Hadley, New York.LCA2 patient
![Page 2: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/2.jpg)
What can we do about LCA2?What do we need to know first?
![Page 3: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/3.jpg)
Dataset 1: A family history
Genetic? Infectious? Environmental?
![Page 4: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/4.jpg)
Dataset 2: Eye physiologyAffected and unaffected individuals
Clarity measurements
Latency and amplitude of nerve transmission
![Page 5: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/5.jpg)
Dataset 3: Molecular information
Affected and unaffected individuals
Measurements of rhodopsin, cis-retinal, trans-retinal, Na+ concentration, mitochondria and DNA amounts
Retinal
![Page 6: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/6.jpg)
lightChange in [Na+] sends a signal down the optic nerve
cis-retinal
trans-retinal
![Page 7: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/7.jpg)
lightChange in [Na+] sends a signal down the optic nerve
RPE65
![Page 8: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/8.jpg)
lightChange in [Na+] sends a signal down the optic nerve
RPE65
LCA2!
![Page 9: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/9.jpg)
lightChange in [Na+] sends a signal down the optic nerve
RPE65
LCA2!
Can we replace the defective RPE65 gene with a functional gene?
![Page 10: Corey Haas, age 8, of Hadley, New York. LCA2 patient.](https://reader035.fdocuments.us/reader035/viewer/2022062311/5a4d1aef7f8b9ab05997d652/html5/thumbnails/10.jpg)
Corey HaasAfter RPE65 gene therapy on one eye