Ophthalmic Genetics Study Club 2022 – Chicago Hybrid Meeting
OGSC 2022 – Presentation Recordings
Dear Friends and Colleagues
Below are the recordings from the recent OGSC 2022 Hybrid Meeting, held in Chicago and virtually.
Ginny & Elias
Virginia M. Utz & Elias I. Traboulsi
- 100 - Dr A Linn Murphree - IN MEMORIAM
- 101 - Giacomo Bacci
- 102 - Natario Couser
- 103 - Arif Khan
- 104 - Scott E. Brodie
- 105 - Alex V. Levin
- 106 - Arlene V. Drack
- 107 - Savleen Kaur
- 108 - Zia Chaudhuri
- 109 - Janey Wiggs
- 110 - Ramiro Maldonado
- 111 - Meghan DeBenedictis
- 112 - Rachel Huckfeldt
- 113 - Rebecca Procopio
- 114 - Sarah Chorfi
- 115 - Daniel Chung
- 116 - Jose Pulido
- 117 - Robert Sisk
- 118 - Selwa Al-Hazzaa
- 119 - Diana Brightman
- 120 - Miriam Ehrenberg
- 121 - Lev Prasov
- 122 - Sarah Hull
- 123 - Kimberly Stepien
- 124 - Terri Young
- 125 - Virginia Utz
Ophthalmic Genetics Study Club Hybrid Meeting
Thursday, September 29th, 2022
Ophthalmic Genetics Study Club Hybrid Meeting
Thursday, September 29th, 2022
Hancock Building close walk from Children’s Hospital
875 N. Michigan Avenue, 14th Floor, Room 108
Moderators: Elias I. Traboulsi & Virginia M. Utz
This year’s meeting is dedicated to Dr. A. Linn Murphree
ALL TIMES ARE CHICAGO TIME
8:00
BREAKFAST & CATCHING UP
8:30 – 12:00 – SESSION 1
MODERATOR: ELIAS TRABOULSI
8:30 – Virtual Presentation
Expanding the spectrum of Oculocutaneous Albinism: does isolated foveal hypoplasia really exists?
Giacomo Bacci, MD, PhD (Staff), Meyer Children’s Hospital, Fi, Italy
8:45
The Management of Inherited Retinal Disease by an Ophthalmic Genetic Service: An Analysis of Provider Referral Patterns, Delays in Diagnosis and the Diagnostic Yield of Genetic Testing
Natario Couser, MD, PhD (Staff), Virginia Commonwealth University
9:00
A woman referred for evaluation of Stargardt disease
Arif Khan, MD, Cleveland Clinic AbuDhabi
9:15
The problem of monocular cases of inherited retinal disease
Scott E. Brodie, MD, NYU Langone Health
9:30
Right disease, wrong gene or wrong gene, right disease
Alex V. Levin, MD, MHSc, FAAP, FAAO, FRCSC, Flaum Eye Institute
9:45
Use of VEP in Inherited Retinal Degenerations
Arlene V. Drack, MD, University of Iowa
10:00 Virtual Presentation
Multimodal imaging characteristics and correlation with genetic profile of achromatopsia in North Indian population.profile of achromatopsia in North Indian population.
Savleen Kaur, MD, Department Of Ophthalmology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India
10:15 Virtual Presentation
Registry of 85 informative south Asian pedigrees with primary concomitant strabismus: A meta-analysis
Zia Chaudhuri, MD, LHMC & Associated Hospitals, PGIMER & Dr. RML Hospital, New Delhi, India
10:30
Repeatability of a Truncated Visual Field Protocol in Pediatric Inherited Retina Disease Patients
Mitchell Jacobs, MD, University of Kentucky
10:45
Case Presentation
Meghan DeBenedictis, CGC, MEd, Cole Eye Institute
11:00
In Honor of A. Linn Murphree
Janey Wiggs, MD, PhD, MEEI, Harvard Medical School
12:00 LUNCH
1:00 – 4:45 – SESSION 2
MODERATOR: GINNY M. UTZ
1:00
Case Presentation
Rachel Huckfeldt, MD, MEEI, Harvard Medical School
1:15 Virtual Presentation
Case Presentation
Rebecca Procopio, MD, Wills Eye Hospital
1:30 Virtual Presentation
Case Presentation
Sarah Chorfi, MD, MEEI, Harvard Medical School
1:45
Gene independent approaches to cone photoreceptor survival and rescue in rod cone dystrophies
Daniel Chung, DO, Sparing Vision
2:00
Case Presentation
Jose Pulido, MD, Wills Eye Hospital
2:15 Virtual Presentation
Off-Label Voretigene Neparvovec-rzyl for Dominant RPE65 Dystrophy
Robert Sisk, MD, University of Cincinnatti
2:30
RPE65 Gene Therapy in Saudi Arabia
Selwa Al-Hazzaa, MD, Al-Faisal University
2:45 Virtual Presentation
Variant Classification and Reporting Differences Can Lead to Variable Test Yield on Retinal Dystrophy Panels
Diana Brightman, Ph.D, MS, CGC, Cincinnati Children’s Hospital
3:00
Case Presentation
Jennifer Galvin, MD, Yale New Haven Hospital
3:15 Virtual Presentation
Genetic Causes for IRDS in Ethiopean Jews
Miriam Ehrenberg, MD, Schneider Children’s Medical Center, Israel
3:30
Brothers with optic neuropathy: LHON or not?
Lev Prasov, MD, University of Michigan
3:45
Isolated ectopia lentis in Polynesian patients
Sarah Hull, MD, Auckland Eye New Zealand
4:00
A “Spleenided Case!”
Kimberly Stepien. MS, CGC, University of Wisconsin
4:15
PIEZO1 and PIEZO2 Pathogenic Variants Identified in Primary Congenital Glaucoma
Terry Young, MD, University of Wisconsin – Madison, School of Medicine and Public Health
4:30
Case Presentation
Virginia Utz, MD, Cincinnati Children’s Hospital
4:45 – 5:00 – BUSINESS MEETING
Proposed Ophthalmic Genetics Study Club New Members for 2022: To be voted on during the business meeting.
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