Ophthalmic Genetics Study Club 2024 – Chicago
Ophthalmic Genetics Study Club 2024 - Group Photograph
Ophthalmic Genetics Study Club 2024 – Chicago Hybrid Meeting
Thursday, October 17 – Ann & Robert H. Lurie Children’s Hospital of Chicago
OGSC 2024 – Final Program
Moderators: Elias I. Traboulsi & Virginia M. Utz
Session 1
Schedule |
Title |
Presenter |
| 7:00 | Breakfast/Catching up | |
| 7:25 | Welcome | Elias I. Traboulsi, MD, MEd Cleveland Clinic Cole Eye Institute Virginia Utz, MD Cincinnati Children’s Hospital Medical Center |
| 7:30 | Awardee Presentation “MORC2-related Neurodevelopmental and Neuropathy Spectrum Disorder and Klinefelter syndrome: Genetic and Ocular Findings” |
Rebecca Procopio, MS, CGC Wills Eye Hospital |
| 7:45 | RPE65 Update: – Safety and Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 8 and 9 Years – Genetic epidemiology of RPE65-mediated inherited retinal disease in the United States |
David L. Rousso, Ph.D Aditya Saxena, Ph.D Spark Therapeutics, Inc. |
| 8:05 | The Long and Short of it: Expanding the Phenotype and Ocular Manifestations of Neurofibromatosis 1 Microdeletion Syndrome | Janice Lasky Zeid, M.D. Ann & Robert H. Lurie Children’s Hospital of Chicago/Northwestern University |
| 8:20 | Pars Plana Vitrectomy in Congenital X-Linked Retinoschisis | Nieraj Jain, M.D. Department of Ophthalmology, Emory University School of Medicine |
| 8:35 | Could Estrogen reduce the Split? | Kimerly Stepien MD University of WI- Madision Department of Ophthalmology and Visual Sciences |
| 8:50 | Ophthalmological Manifestations in a Pediatric Population with Stickler Syndrome Types I and II | Andy Drackley, MS, CGC Lurie Children’s Hospital of Chicago |
| 9:05 | Macular dystrophy, what is the missing puzzle piece? | Fyqah Almahmoudi, MD King Fahd Armed Forces Hospital, Saudi Arabia |
| 9:20 | Coffee Break | |
Session 2
Schedule |
Title |
Presenter |
| 9:40 | Genetic Basis for Bilateral Optic Atrophy, Bilateral Medial Rectus Hypoplasia, Oligophrenia and Stroke in 31 y/o Male | Patrick J. Droste MS, MD Pediatric Ophthalmology PC |
| 9:55 | Phenotypic variability of MAF-Associated Congenital Cataracts: Isolated or Syndromic? | Jennifer Rossen, MD Lurie Children’s Hospital of Chicago |
| 10:10 | Awardee Presentation “Compound Heterozygous Nonsense and Frameshift Mutations in Exon 43 of EYS Causing Reduced Penetrance” |
Megan Soucy, MS, CGC Columbia University – Department of Ophthalmology |
| 10:25 | Genotypic and Phenotypic Expansion of ADAMTS18-Related Ocular Pathology | Ari August, MD Wills Eye Hospital |
| 10:40 | Genetic variants in patients with bilateral congenital cataracts in a large cohort from North India | Savleen Kaur, MD, DNB, FICO, FAICO Post Graduate Institute of Medical Education and Research, India |
| 10:55 | Lessons learned from the ClinGen Gene and Variant Curation Expert Panels | Lev Prasov, MD, PhD University of Michigan |
| 11:10 | Macular scars from prior ocular toxoplasmosis infection? | Arif Khan, MD Cleveland Clinic Abu Dhabi |
| 11:25 | Compound heterozygous CYP1B1 variants in juvenile open angle glaucoma (JOAG) | Brenda L. Bohnsack, MD, PhD Ann & Robert H. Lurie Children’s Hospital of Chicago |
| 11:40 | INTS11 neurodevelopmental disorder with electronegative ERG | Monique Leys, MD WVU Eye Institute |
| 11:55 | Lunch Break |
Session 3
Schedule |
Title |
Presenter |
| 12:40 | Tribute to Frank Judisch, MD | Arlene Drack, MD University of Iowa |
| 12:50 | Distinguished Special Lecture “Saturday Night FEVR and Three Decades of Research in Maritime Canada” |
Johane Robitaille, MD |
| 13:40 | Thirty-year follow-up of surgical repair of congenital ectopia lentis including DNA analysis | Irene H Maumenee, MD CUIMC/Edward S. Harkness Eye Institute |
| 13:55 | Homozygous deletion in P-CARE results in a maculopathy and cone-rod dystrophy | Ian MacDonald, MSc, MD, CM University of Montreal |
| 14:10 | Pigmentary retinopathy and optic disc swelling in siblings with ABCA4 mutations | Scott Brodie, MD, PhD Columbia University Vagelos College of Physicians and Surgeons |
| 14:25 | Association of colobomas with variants in the Rho family of small GTPases and effector genes | Diana Brightman, PhD, MS Cincinnati Children’s Hospital Medical Center |
| 14:40 | Amblyopia Not Responding to Treatment | Alina Dumitrescu, MD University of Iowa |
| 14:55 | Microcephaly and chorioretinopathy in a child born to an Ophthalmology resident: perspectives as a doctor and mother in training | Emily Levine, MD Dartmouth Hitchcock Medical Center |
| 15:10 | Coffee Break |
Session 4
Schedule |
Title |
Presenter |
| 15:30 | Results of the first patient-customized intravitreally-administered antisense oligonucleotide (ASO) for a patient with retinal dystrophy caused by an intronic pseudogene | Emily McCourt, MD University of Colorado |
| 15:45 | A case of fish-eye disease caused by novel variants in LCAT | Matt Benson, MD University of Alberta |
| 16:00 | Deep phenotyping reveals novel ophthalmic findings in Smith-Lemli-Optiz Syndrome | Kati Veres, MD National Eye Institute/NIH |
| 16:15 |
Case Presentation
|
Noor Ghali, M.S. Case Western Reserve University SOM |
| 16:30 | Ellipsoid zone optical gap and cone-rod dystrophy secondary to ABCA4 p.Pro143Leu variant | Kirill Zaslavsky Massachusetts Eye and Ear Infirmary |
| 16:45 | Ultracompact hand-held swept source optical coherence tomography (SS-HH-OCT) as a novel diagnostic modality for early-onset retinal dystrophies (EORDS) | Ramiro Maldonado, MD Duke Eye Center |
| 17:00 |
Presentation
|
Dan Chung, DO SparingVision |
| if time permits | Case Presentation | Scott Brodie, MD, PhD Columbia University Vagelos College of Physicians and Surgeons |
| Concluding Remarks / Adjourn | ||
| OGSC Business Meeting | ||
OGSC 2024 - Travel Award Winners
Rebecca Procopio - Wills Eye Hospital
Megan Soucy - Columbia University Medical Center
ISGEDR is pleased to announce two genetic counselors have been awarded a travel award for this year's OGSC conference:
Rebecca Procopio of Wills Eye Hospital presenting MORC2-related Neurodevelopmental and Neuropathy Spectrum Disorder and Klinefelter syndrome: Genetic and Ocular Findings.
Megan Soucy of Columbia University Medical Center Ophthalmology Department presenting Compound Heterozygous Nonsense and Frameshift Mutations in Exon 43 of EYS Causing Reduced Penetrance.
OGSC 2024 - Sponsors
The content of this meeting is independent of commercial interests
Any conflict of interest by the scientific organizers or the presenters will be disclosed in the related presentations, in the meeting proceedings, and on the meeting website. The Ophthalmic Genetics Study Club (OGSC) in addition wishes to thank the following sponsors who have generously supported the OGSC Hybrid Meeting – Thursday, October 17th, 2024:
Travere Therapeutics
Rhythm Therapeutics
SparingVision
2025 OGSC Genetic Counselor Travel Stipend Application
The International Society of Genetic Eye Diseases is proud and excited to offer two genetic counselors a travel stipend in the amount of $1500 in order to attend the 2025 Ophthalmic Genetics Study Club to be held on Friday, October 17, 2025 in Orlando, FL. Please complete this application in its entirety if you are interested in being considered. Application deadline is Monday, August 25, 2025.
Scan the QR code above or use the Application Link HERE
2024 OGSC Genetic Counselor Travel Stipend Application
The International Society of Genetic Eye Diseases is proud and excited to offer two genetic counselors a travel stipend in the amount of $1500 in order to attend the 2024 Ophthalmic Genetics Study Club to be held on Thursday, October 17, 2024 in Chicago, IL. Please complete this application in its entirety if you are interested in being considered. The deadline to apply is Friday, August 30, 2024.
Scan the QR code above or use the Application Link HERE
OGSC 2024 Hybrid Meeting – Save the Date
OGSC 2024 Hybrid Meeting
Thursday, October 17, 2024
7:00 am to 5:00 pm.
Ann & Robert H. Lurie Children’s Hospital of Chicago
225 E. Chicago Ave, Box 70
Chicago, IL 60611-2991
Registration fee:
$60.00 Virtual
$100.00 In Person
‘In Person’ registration fees will includes breakfast, lunch and coffee breaks. Registration linked HERE
Are you eligible for our $75 Discount Voucher Code?
If you are a Student, Fellow or practice in one of the United Nations Least Developed Countries then you can apply for a $75 Voucher Code.
Simply ask your supervisor to document your location, trainee or student status to Elias at TRABOUE@ccf.org
Ophthalmic Genetics Study Club 2024 Meeting Registration
OGSC – In Person
Please join us for another fabulous OGSC hybrid meeting this October in Chicago.
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Friday, October 17, 2025
8:00 am to 5:00 pm USA Eastern Daylight Time (EDT)
Rosen Plaza, Ballroom C, 9700 International Dr, Orlando, FL 32819
'In Person’ registration fees will includes breakfast (7:30 am), lunch and coffee breaks.
This year we shall again be going Hybrid. Please note you are purchasing an In Person Registration
'In Person’ registration fees will includes breakfast, lunch and coffee breaks
ALL delegates will also receive the Zoom Webinar Link to allow interaction with the Moderator and online delegates in the Chat and Q&A.
As usual, the Webinar will be recorded and be available shortly after the event on the ISGEDR website.
$100.00
Out of stock
OGSC – Virtual
Please join us for another fabulous OGSC hybrid meeting this October in Chicago.
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Friday, October 17, 2025
8:00 am to 5:00 pm USA Eastern Daylight Time (EDT)
Presented Virtually as a Zoom Webinar from Rosen Plaza, Ballroom C, 9700 International Dr, Orlando, FL 32819
This year we shall again be going Hybrid. Please note you are purchasing a Virtual Registration
ALL delegates will receive the Zoom Webinar Link in the week prior to the event.
As usual, the Webinar will be recorded and be available shortly after the event on the ISGEDR website.
$60.00
Out of stock