Ophthalmic Genetics Study Club (OGSC)
OGSC 2025 Hybrid Meeting - Save the Date
Registration now open:
$100 for In Person – $60 for Virtual
Our venue for OGSC 2025 - Rosen Plaza, Orlando, Florida
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
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
Registrations for ‘In Person’ are now closed. ‘Virtual’ registrations are still available, use product link below.
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
ISGEDR 2025 - Oslo
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OGSC 2023 Hybrid Meeting - Program Available
View the latest Program for OGSC 2023 via this quick Program Link
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Friday, November 3rd, 2023
Dear Colleagues
Please join us for another fabulous OGSC hybrid meeting before the AAO meeting in San Francisco!
Ophthalmic Genetics Study Club (OGSC)
The meeting is in Gallery 1
Hyatt Regency San Francisco Downtown SOMA
Hybrid Meeting – Friday, November 3, 2023
7:00 am to 5:00 pm
Hyatt Regency San Francisco Downtown Soma
The registration fee will be slightly higher than previous years because of the associated expenses with securing an assigned venue through AAO, we have to charge a registration fee to cover expenses. The fees are:
In-Person: $150.00
Virtual: $75.00
‘In Person’ registration fees will includes a Brunch and Coffee breaks.
The Yearly Distinguished Special Lecture will be given by Dr. Arif Khan from
Cleveland Clinic Abu Dhabi. The title of his presentation will be:
“Inherited eye disease: lessons I have learned on the Arabian Peninsula”
OGSC 2023 Hybrid Meeting - Program
Moderators: Elias I. Traboulsi & Virginia M. Utz
Session 1
Schedule |
Title |
Presenter |
| 7:00 | Breakfast/Catching up | |
| 7:30 | Welcome & Case Presentation | Elias I. Traboulsi, MD, Med Cleveland Clinic Cole Eye Institute |
| 7:42 | Peripheral Retinopathy in Patients with ELOVL4-related Spinocerebellar Ataxia | Laryssa Huryn, MD Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA |
| 7:54 | Retinal vessel tortuosity in a patient presenting to the on-call ophthalmology service with transient visual disturbance | Matthew Benson, MD, MSc, FRCSC University of Alberta |
| 8:06 | Expanding the spectrum of DYRK1A-related disease | Giacomo Bacci, MD, PhD AOU Meyer Children’s Hospital, Florence, Italy |
| 8:18 | RP1 Dominant p.Ser740* Pathogenic Variant In 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Founder Effect in Western Sicily | Dr Fabiana D'Esposito MD, PhD Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, London, UK Eye Clinic, University of Naples “Federico II”, Italy |
| 8:30 | Bones, rods and cones | Mark Pennesi, MD, PhD Oregon Health Sciences University |
| 8:42 | The Essential Role of Genetic Testing in the Phenotypic Heterogeneity of Stargardt Disease | Natario Couser, MD, PhD* Virginia Commonwealth University School of Medicine |
| 8:54 | Ocular Findings in a Case of Schimke-Immuno-Osseous Dysplasia | Lev Prasov, MD, PhD* University of Michigan |
| 9:06 | Macular dystrophy or generalized IRD | N. Anais El Salloukh, MD Cole Eye Institute, Cleveland Clinic |
| 9:18 | Bull’s Eye Maculopathy and Inconclusive Genetic Testing | Diana Brightman, PhD, MS, LGC* Cincinnati Children’s Hospital Medical Center |
| 9:30 | Pattern of Retinal Vessel Whitening in Retinitis Pigmentosa | Shaden Yassin, MD, PhD Shiley Eye Institute, UC San Diego |
| 9:42 | POMGNT1-related non-syndromic RP: Intrafamilial variability | Monique Leys, MD, PhD West Virginia University |
| 9:54 | Comparing the foveal avascular zone in retinitis pigmentosa with and without cystoid macular edema | Ramiro S. Maldonado, MD Duke University Eye Center |
| 10:06 | Electrophysiological changes in a case of SMVT | Randa El Mofty, MD Cairo University, Egypt |
| 10:18 | Distinguished Special Lecture “Inherited Eye Disease: Lessons I Have Learned on the Arabian Peninsula” Arif O. Khan, MD Cleveland Clinic Abu Dhabi |
|
| 11:00 | Boxed Lunch | |
Session 2
Schedule |
Title |
Presenter |
| 12:00 | Ophthalmic findings in the KIF1A-associated neurological disorder (KAND) | Aliaa H. Abdelhakim MD PhD, Scott Brodie MD PhD, Wendy K. Chung MD PhD Columbia University Medical Center |
| 12:12 |
Expression and phenotypes of a zebrafish crispant model of crim1 loss of function in eye development
|
Tien Le, Stephanie Htun, Yihui Sun, Chung Lee, Ehsan Ullah, Brian Brooks, Rob Hufnagel, Sergio Baranzini, Anne Slavotinek, MD, PhD Cincinnati Children’s Hospital Medical Center |
| 12:24 | First Interim Safety Report On Patients Receiving Rod-Derived Cone Viability Factor (RDCVF) | Dan Chung, DO CMO, Sparing Vision |
| 12:36 | Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts | Jennifer Rossen, MD Lurie Children’s Hospital |
| 12:48 | Ocular Manifestations of Gain-of-Function Pathogenic Variants in CLCN6, A Newly Diagnosed Disease | Margaret Reynolds, MD Washington University in St. Louis |
| 13:00 | Case Presentation | Juliana Sallum, MD, PhD* Sao Paulo, Brazil |
| 13:12 | North Carolina Macular Dystrophy (NCMD/MCDR1/MCDR3): Analysis of Our Entire Database: A Model Disease of Noncoding Mutations, A Culmination of 37 Years of Work | Kent Small, MD Macula & Retina Institute |
| 13:24 | How common is an incidental finding of an Leber Hereditary Optic Neuropathy mtDNA mutation? | David Mackey, MD, PhD Perth, Australia |
| 13:36 | Case presentation: TBD | Patrick Droste, MD Pediatric Ophthalmology & Ocular Motility |
| 13:48 | PRPS1-related retinopathy in a female patient | Giulia Steuernagel Del Valle, Alina Dumitrescu, MD and Arlene Drack, MD University of Iowa |
| 14:00 | Case Presentation: TBD | Sandeep Grover, MD* University of Florida |
| 14:12 | Cherry red spots | Sarah Hull, MBBS, MA, FRCOphth, PhD* University of Auckland, New Zealand |
| 14:24 | Coffee Break |
Session 3
Schedule |
Title |
Presenter |
| 15:00 | A case of congenital glaucoma: Expanding the phenotype of USP9X-associated intellectual disability syndrome | Emile Vieta, MD UCLA- Stein Eye Institute |
| 15:12 | Histologic Findings in the Eyes of Abcc6 Knockout Rat and Mouse Models of PXE | Anahita Sehgal, medical student and Jose Pulido, MD Jefferson Medical College |
| 15:24 | The importance of scrutinizing RP1L1 variants in patients with retinitis pigmentosa: is it really recessive RP? | Rola Ba-Abbad, MD |
| 15:36 | The ocular phenotypical manifestation related to XYLT2gene mutation – a case presentation | Fyqah Almahmoudi, MD KKESH, Saudi Arabia |
| 15:48 | Random Allelic Expression in Inherited Retinal Dystrophies | Collin Richards, MD and Jose Pulido, MD Wills Eye Hospital |
| 16:10 |
No Soft Landing: Counseling Challenges for Newly Described Non-Syndromic Retinal Phenotypes |
Elizabeth Kellom, MS, CGC UW-Madison |
| 16:24 | Treatment versus observation in a child with bilateral subretinal scars: what next for this patient? | Jennifer Galvin, MD |
| 16:36 | Barriers to genetic testing | Angela Li, MD, Ramiro Maldonado, MD Duke University Eye Center |
| 16:48 | Concluding Remarks / Adjourn | |
| 17:05 | OGSC Business Meeting | |
OGSC 2023 - 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 – Friday, November 3rd, 2023:
Rhythm Therapeutics
SparingVision
Travere Therapeutics
New for Ophthalmic Genetics and online
NOW on Taylor & Francis Online
Case Report
Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration
Noy Ashkenazy, Jesse D. Sengillo, Prashanth G. Iyer, Catherin I. Negron, Nicolas A. Yannuzzi & Audina M. Berrocal
Pages: 1-4 | DOI: 10.1080/13816810.2022.2149816
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement
Aramis B. Torrefranca, Suzanne Marie Carmona, Alvina Pauline D. Santiago, Eva Cutiongco-Dela Paz & Michelle D. Lingao
Pages: 1-4 | DOI: 10.1080/13816810.2022.2144904
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI
Marissa M. Patel, Thomas A. Lazzarini, Joshua H. Uhr, Catherin I. Negron & Audina M. Berrocal
Pages: 1-2 | DOI: 10.1080/13816810.2022.2098988
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report
Virginia Miraldi Utz, Jared J. Ebert, Diana S. Brightman, Brittany N. Simpson, Stefanie Benoit & Robert A. Sisk
Pages: 1-4 | DOI: 10.1080/13816810.2022.2090011
Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency
Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan & Alejandra G. de Alba Campomanes
Pages: 1-5 | DOI: 10.1080/13816810.2022.2141792
Research Report
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases
Lilia T. Popova, Rebhi O. Abuzaitoun, Maria Fernanda Abalem, Chris A. Andrews, Alison M. Mondul, Gabrielle D. Lacy, David C. Musch & K. Thiran Jayasundera
Pages: 1-8 | DOI: 10.1080/13816810.2022.2144901
New from Ophthalmic Genetics
Ophthalmic Genetics, Volume 42, Issue 6, December 2021 is now available online on Taylor & Francis Online.
This new issue contains the following articles:
Review
Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis
Nasrin Roshanipour, Elham Shahriyari, Maryam Ghaffari Laleh, Leila Vahedi, Sousan mirjand Gerami & Amin Khamaneh
Pages: 641-649 | DOI: 10.1080/13816810.2021.1955274
Research Reports
Genetic disease is a common cause of bilateral childhood cataract in Denmark
Line Kessel, Daniella Bach-Holm, Moug Al-Bakri, Laura Roos, Allan Lund & Karen Grønskov
Pages: 650-658 | DOI: 10.1080/13816810.2021.1941128
The association of OPG polymorphisms with diabetic retinopathy in Chinese population
Huijuan Xu, Huan Li, Qian Luo, Yihui Li, Guo Huang, Chuntao Lei, Fang Hao, Jialing Xiao, Chen Yang, Man Yu, Ziyang Wang, Yi Shi, Ling Zhong, Lixin Duan, Huafu Chen, Yao Dezhong, Bo Gong & Zhenglin Yang
Pages: 659-663 | DOI: 10.1080/13816810.2021.1946702
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
Austin D. Igelman, Cristy Ku, Mariana Matioli da Palma, Michalis Georgiou, Elena R. Schiff, Byron L. Lam, Eeva-Marja Sankila, Jeeyun Ahn, Lindsey Pyers, Ajoy Vincent, Juliana Maria Ferraz Sallum, Wadih M. Zein, Jin Kyun Oh, Ramiro S. Maldonado, Joseph Ryu, Stephen H. Tsang, Michael B. Gorin, Andrew R. Webster, Michel Michaelides, Paul Yang & Mark E. Pennesi
Pages: 664-673 | DOI: 10.1080/13816810.2021.1946704
Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing
Neslihan Duzkale & Umut Arslan
Pages: 674-684 | DOI: 10.1080/13816810.2021.1952616
Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis
Gabriele Kolonaite, Alvita Vilkeviciute, Loresa Kriauciuniene, Greta Gedvilaite & Rasa Liutkeviciene
Pages: 685-690 | DOI: 10.1080/13816810.2021.1952619
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations
Ayca Kocaaga, Gunes Cakmak Genc, Sevim Karakas Celık, Rafet Koca & Ahmet Dursun
Pages: 691-697 | DOI: 10.1080/13816810.2021.1955273
The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia
Natalya Eliseeva, Irina Ponomarenko, Evgeny Reshetnikov, Volodymyr Dvornyk & Mikhail Churnosov
Pages: 698-705 | DOI: 10.1080/13816810.2021.1955275
MERTK retinopathy: biomarkers assessing vision loss
Dhimas H. Sakti , MBBS, Elisa E. Cornish , PhD, FRANZCO, Nina Mustafic , BMSci, MOrth, Afsah Zaheer , BHSci, MOrth, Stephanie Retsas , BForBiol, MOrth, Sulekha Rajagopalan , MBBS, FRACP, Clara WT Chung , MBBS, FRACP, Lisa Ewans , MBBS, FRACP, Peter McCluskey , MD, FRANZCO, Benjamin M. Nash , BMedSci, Robyn V. Jamieson , PhD, FRACP & John R. Grigg , MD, FRANZCO
Pages: 706-716 | DOI: 10.1080/13816810.2021.1955278
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism
Junwei Zhong, Bing You, Ke Xu, Xiaohui Zhang, Yue Xie & Yang Li
Pages: 717-724 | DOI: 10.1080/13816810.2021.1958352
The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorphisms
Serdar Ilguy, Oguz Cilingir, Mustafa Deger Bilgec, Onur Ozalp, Ebru Erzurumluoglu Gokalp, Serap Arslan, Neslihan Tekin, Ozge Aydemir, Nazmiye Erol, Ertugrul Colak & Huseyin Gursoy
Pages: 725-731 | DOI: 10.1080/13816810.2021.1961279
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma
Dilara Fatma Akin-Bali
Pages: 732-743 | DOI: 10.1080/13816810.2021.1961280
Mutation Report
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy
Raffi Aprahamian, T. Yammine, N. Salem, M. Souaid, H. Mansour & C. Farra
Pages: 744-746 | DOI: 10.1080/13816810.2021.1955277
Case Reports
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy
Elena Mermeklieva, Kunka Kamenarova, Kalina Mihova, Felitsiya Shakola & Radka Kaneva
Pages: 747-752 | DOI: 10.1080/13816810.2021.1946700
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome
Filipa G Rodrigues, Harry Petrushkin, Andrew R Webster, Maria Bickerstaff, Elena Moraitis, Dorota Rowczenio, Juan I. Aróstegui & Mark Westcott
Pages: 753-764 | DOI: 10.1080/13816810.2021.1946701
Spontaneous resolution of schitic cavities in XLRS
Thomas G. Campbell, James Elder & Jon Ruddle
Pages: 765-767 | DOI: 10.1080/13816810.2021.1946705
Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant | Open Access
Jingjing Xu, Kang Li, Bodi Zheng & Hong Dai
Pages: 768-772 | DOI: 10.1080/13816810.2021.1952617
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy
Youssr Louati, Veronika Vaclavik, Alexandre Moulin, Daniel Schorderet, Francis L. Munier & Hoai Viet Tran
Pages: 773-779 | DOI: 10.1080/13816810.2021.1952620
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
Mohammed A. Rafei, Beena Harikrishna, Khalid Al Thihli, Abdullah S. Al-Mujaini & Anuradha Ganesh
Pages: 780-783 | DOI: 10.1080/13816810.2021.1952621
Letter to the Journal
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation
Eva S. Lachmann, Luca Mautone & Simon Dulz
Pages: 784-786 | DOI: 10.1080/13816810.2021.1970196
Letter to the Editor
Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family
Masoud Dehghan Tezerjani, Behdokht Fathi Dizaji, Zahra Metanat & Mohammad Yahya Vahidi Mehrjardi
Pages: 787-789 | DOI: 10.1080/13816810.2021.1955276
Correction
Correction
Pages: 790-790 | DOI: 10.1080/13816810.2021.1976939
Date for your diary… Ophthalmic Genetics Study Club 2021 Meeting
Thursday, November 11th, 2021
Dear Friends and Colleagues
We would like to invite you to participate in the upcoming Ophthalmic Genetics Study Club (OGSC) to precede the meeting of the American Academy of Ophthalmology.
We are deeply saddened by the loss of our dear OGSC member, friend and colleague, Marilyn Miller, MD. This year’s meeting is dedicated to her in memoriam. To that effect we have also invited Dr. Arlene Drack to give a scientific presentation to honor Dr. Miller.
This year again the meeting will be virtual and will be managed by the webmaster of ISGEDR, Geoff Cross from Harrogate, England.
The meeting will start at 9:00 am US Eastern time and will end at 4:30 pm with an hour break for lunch at noon. This will allow for 6.5 hours of presentations. We will restrict the number of presentations to four per hour, to include 10 minutes for the case/study presentation and 5 minutes for discussion. This makes for a total of 26 presentations. Priority will be given to those who have presented previously but have not reached the required three presentations to achieve full member status. Additional presentations will be selected from the remaining submitted titles.
Please note:
- Submission of titles will close on October 22nd (Friday). Please send the titles of your presentations to Sandy Wong (wongs1@ccf.org) at your earliest convenience and before the deadline.
- Presenters will be notified before October 29th of the acceptance and time of their papers.
- Registration will be open until November 7th (Sunday). You can register for the meeting through the ISGEDR website at ISGEDR.com.
- Please note that you can register whether you are presenting or not. Registration opens October 1st (Friday)
We very much look forward to another successful get together!
Ginny & Elias
Virginia M. Utz & Elias I. Traboulsi
Virtual for 2020 – Ophthalmic Genetics Study Club
Dear ISGEDR Members,
Below you can watch the recording of the recent Virtual OGSC.
Best regards.
Elias I. Traboulsi and
Virginia (Ginny) M. Utz
Going Virtual for 2020 – Ophthalmic Genetics Study Club
Dear members and friends of the OGSC,
We invite you to register and submit a title if you choose to for a presentation at the upcoming meeting to be held virtually on Saturday November 14 between 9:00 am and 5:00 pm USA Eastern Time.
We plan on 5-6 presentations per hour with a lunch break.
OGSC San Francisco 2019 – Venue and Date Announced
This year’s OGSC meeting will be on Friday, October 11, 2019 and will be held at the Westin St. Francis hotel.
OGSC Chicago 2018
More than 50 delegates attended the OGSC meeting at Lurie Children’s Hospital
and participated in the discussion of 25 scientific presentations.
2018 Ophthalmic Genetics Study Club
Our Hosts
Ophthalmic Genetics Study Club
OGSC 2016 Agenda OGSC 2015 Program OGSC 2014 Program
The 2016 Ophthalmic Genetics Study Club Meeting details are the following:
Date: Friday, October 14, 2016
Time: 8:00am – 5:00pm
Location: Ann & Robert H. Lurie Children’s Hospital 225 East Chicago Avenue
Ophthalmic Genetics – FREE Subscription
The Journal is the official publication of ISGEDR and the OGSC. Members of ISGEDR receive a free subscription to the Journal and have access to all back issues.
Click here to visit the home page of Ophthalmic Genetics on the Informa Publisher website
“Coming Soon… the 45th Meeting of the Ophthalmic Genetics Study Club”
Video Screencasts
HD Video Screencasts from Joint ISGEDR/UK-EGG Meeting
You can now enjoy nearly all the wonderful presentations from the International Meeting hosted in Leeds.
