Ophthalmic Genetics Study Club (OGSC)
Join us for the Golden Anniversary - OGSC 2026
Registration fee: $100.00 Virtual – $150.00 In Person
'In Person’ registration fees will includes breakfast, lunch and coffee breaks. Registration linked HERE
Dear Friends and Colleagues
Please join us for the 50th meeting of the Ophthalmic Genetics Study Club. This is the Golden Anniversary of this distinguished group, and we are planning a very special program. Not only will we have the usual engaging participation by members and guests, but Professor Irene Maumenee will treat us to what promises to be an amazing presentation, the contents of which will cover the past, present and future of our beloved field of Ophthalmic Genetics.
We hope to see you in New Orleans on Thursday 8th October at 7.30am
For registration and to submit an abstract please register linked HERE
The Organizing Committee - E. Traboulsi, V. Utz and A. Dumitrescu
OGSC 2026 Hybrid Meeting - Save the Date
Registration Open:
$150 for In Person – $100 for Virtual
OGSC 2026 Hybrid Meeting
Thursday, October 8, 2026
8:00 am to 5:00 pm USA Central Daylight Time (CDT)
Breakfast 7:30 am - Meeting begins 8:00 am
The Hilton Garden Inn
1001 S. Peters Street, New Orleans, LA, 70130, US
Our venue for OGSC 2026 - Hilton Garden Inn New Orleans
ABSTRACT SUBMISSIONS
Now accepting abstract submissions, DEADLINE is Monday, August 31, 2026
(reminder all abstracts accepted must be presented IN PERSON)
2026 OGSC Genetic Counselor Travel Stipend Application
The International Society of Genetic Eye Diseases is proud and excited to offer one genetic counselor a travel stipend in the amount of $1500 in order to attend the 2026 Ophthalmic Genetics Study Club to be held on Thursday, October 8, 2026 at The Hilton Garden Inn in New Orleans, LA. Please complete the application in its entirety if you are interested in being considered.
Scan the QR code above or use the Application Link HERE
OGSC 2026 Hybrid Meeting - Abstract Submission Form
Abstract Submission Form
Abstract Submission Deadline is Monday, 31st August
Ophthalmic Genetics Study Club 2026 Meeting Registration
OGSC – In Person
Please join us for another fabulous OGSC hybrid meeting this October in New Orleans.
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Thursday, October 8, 2026
8:00 am to 5:00 pm USA Central Daylight Time (CDT)
The Hilton Garden Inn, 1001 S. Peters Street, New Orleans, LA, 70130, US
'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.
$150.00
OGSC – Virtual
Please join us for another fabulous OGSC hybrid meeting this October in New Orleans.
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Thursday, October 8, 2026
8:00 am to 5:00 pm USA Central Daylight Time (CDT)
Presented Virtually as a Zoom Webinar from The Hilton Garden Inn, 1001 S. Peters Street, New Orleans, LA, 70130, US
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.
$100.00
Ophthalmic Genetics Study Club 2024 - Group Photograph
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.
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
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
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 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.
