Ophthalmic Genetics Study Club (OGSC)
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)
Hybrid Meeting – Friday, November 3, 2023
8:00 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”
You can register online below.
Abstract Submissions:
Please send the titles of your presentations and a brief abstract as soon as possible so we can plan the program accordingly. Send the titles +/- abstract to Sandy Wong: wongs1@ccf.org and submit them online
Please consider the following as you prepare your abstract:
1. Â Â Preference will be given to those who have presented previously and are eligible for membership to the Ophthalmic Genetics Study Club membership. You become a member if you present three times. We will announce new members at the time of the meeting.
2. Â Â Presenters must be availble (either virtually or online) to present their slides and participate in the discussion. We will do our best to accommodate your time zone accordingly.
3. Â Priority will be given for in-person presentations. Virtual presentations will be considered time permitting.
4. Â Â All presenter slides are due one week before the meeting.
We will let you know if your abstract has been accepted for presentation by October 15 or if you need to know sooner, contact Elias at traboue@ccf.org
Please let us know if you have any additional thoughts or suggestions.
Elias Traboulsi and Ginny Utz
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 2023 Meeting Registration
OGSC-2023 – In Person
Please join us for another fabulous OGSC hybrid meeting before the AAO meeting in San Francisco!
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Friday, November 3, 2023
8:00 am to 5:00 pm USA San Francisco Local Time (Pacific Daylight Time)
Hyatt Regency San Francisco Downtown Soma
This year we shall again be going Hybrid. Please note you are purchasing an In Person Registration
We plan on FOUR presentations per hour with an hour lunch break at noon
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-2023 – Virtual
Please join us for another fabulous OGSC hybrid meeting before the AAO meeting in San Francisco!
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Friday, November 3, 2023
8:00 am to 5:00 pm
Presented Virtually as a Zoom Webinar from Hyatt Regency San Francisco Downtown Soma
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.
$75.00
OGSC 2023 Hybrid Meeting
– Abstract Submission Form
Dear Colleagues
Please use this form to submit your Abstract:
Alternatively you can email your Abstract Submission to Sandy Wong: wongs1@ccf.org
Please consider the following as you prepare your abstract:
1. Â Â Preference will be given to those who have presented previously and are eligible for membership to the Ophthalmic Genetics Study Club membership. You become a member if you present three times. We will announce new members at the time of the meeting.
2. Â Â Presenters must be availble (either virtually or online) to present their slides and participate in the discussion. We will do our best to accommodate your time zone accordingly.
3. Â Priority will be given for in-person presentations. Virtual presentations will be considered time permitting.
4. Â Â All presenter slides are due one week before the meeting.
We will let you know if your abstract has been accepted for presentation by October 15 or if you need to know sooner, contact Elias at traboue@ccf.org
Please let us know if you have any additional thoughts or suggestions.
Elias Traboulsi and Ginny Utz
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!
Â
Ginny & Elias
Virginia M. Utz & Elias I. Traboulsi
Virtual for 2020 –Â 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 –Â 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.Â
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:Â Friday, October 14, 2016
Time: 8:00am – 5:00pm
Location: Ann & Robert H. Lurie Children’s Hospital 225 East Chicago Avenue
Â
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.