VBS VI: Historic Delivery of Gene Therapy for LCA

Brian Do, MD
Vitreoretinal Surgery Fellow
USC Roski Eye Institute

One of the most exciting presentations during VBS VI was a somewhat impromptu, first-of-its-kind video from none other than Dr. Audina Berrocal, MD, of the Bascom Palmer Eye Institute. Since the FDA’s recent approval of Spark Therapeutics’ AAV2-delivered gene therapy for Leber’s Congenital Amaurosis (LCA) secondary to RPE65 mutations, 3 centers across the country have administered this subretinal gene therapy within several days of each other last week. Dr. Berrocal’s video presentation was the first to be viewed at a scientific / academic meeting.


Dr. Berrocal spent a few minutes describing the patient’s and his very supportive family’s struggles in attempting to get him enrolled into a clinical trial for treatment of his LCA, which had been diagnosed at age 2. She showed a pre-operative OCT of both maculae, which demonstrated the presence of foveal and perifoveal photoreceptors, but with diffuse loss and associated outer retinal atrophy outside of the foveal center.

Dr. Berrocal presented her recorded surgical video of pars plana vitrectomy, followed by intraoperative OCT-assisted subretinal injection of this exciting, and very expensive, medication. A deep sigh of relief is said to have been breathed when a nice subretinal bleb was evident clinically and on OCT, confirming correct delivery of the medication.

One of Dr. Berrocal’s tips for successful subretinal injection was to cut the tip of the subretinal cannula in order to introduce a bevel, which she felt aided with entering the subretinal space of a young patient.


Dr. Berrocal recounted her communications with the patient’s mother, who was in disbelief of her son’s ability to read in lower-light conditions just days after treatment.

Rightfully so, Dr. Berrocal’s presentation was met with great applause. This represents a milestone in modern medicine and certainly for the field of vitreoretinal surgery. Congratulations to Dr. Berrocal, her brave patient, and his wonderful family.

VBS VI Coverage:
3/27/2018  VBS VI: Historic Delivery of Gene Therapy for LCA
3/27/2018  VBS VI: Surgical Adventures – Curing One Eye at a Time
3/26/2018  VBS VI: Retinaws
3/26/2018  VBS VI: Complications Session
3/26/2018  VBS VI: Women of VBS Breakfast
3/26/2018  VBS VI: Endophthalmitis Session
3/25/2018  VBS VI: Retina Caliente
3/25/2018  VBS VI: Lifetime Mentorship Award: Jay Duker
3/24/2018  VBS VI: Surgical Adventures – Bridging the Gap
3/24/2018  VBS VI: Real World Retina – Practice Management, Private Equity, Advice for Young Retina Specialists
3/24/2018  VBS VI: Medical Retina
3/24/2018  VBS VI: Live Surgery Session
3/23/2018  VBS VI: Fellows’ Forray
3/24/2018  VBS VI: Welcome to Miami