Episode 76: LCA, CSNB, Achromatopsia and More with Dr. Matthew Weed


Dr. Matthew Weed of the Spokane Eye Clinic rejoins the program to talk specific hereditary conditions including Leber’s congenital amaurosis, congenital stationary night blindness, and achromatopsia.

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[1:20] Introduction

[1:51] Can you talk about the FDA’s review of RPE65 gene therapy trial?

[5:35] Is there an age cutoff for when this will be helpful? Can this reverse damage that is already there?

[7:50] What are a few take-home points to remember and differentiate Leber Congenital Amaurosis (LCA) from other conditions?

[11:10] Can you explain the physiology behind the oculodigital reflex?

[12:25] Tell us a little about Congenital Stationary Night Blidness (CSNB).

[15:49] Discussion of different forms of CSNB.

[18:00] How about Achromatopsia? How do these patients present?

[21:55] How does Achromatopsia compare to Blue Cone Monochromacy?

[23:30] Conclusion and NBA Discussion