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.    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.    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.   Priority will be given for in-person presentations. Virtual presentations will be considered time permitting.

4.    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.    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.    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.   Priority will be given for in-person presentations. Virtual presentations will be considered time permitting.

    4.    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

    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:

    1. 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.
    2. Presenters will be notified before October 29th of the acceptance and time of their papers.
    3. Registration will be open until November 7th (Sunday). You can register for the meeting through the ISGEDR website at ISGEDR.com.
    4. 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.

    Best regards.
    Elias I. Traboulsi and
    Virginia (Ginny) M. Utz

    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

    Ann & Robert H. Lurie Children’s Hospital
    Here is the final programme, faculty and delegates list for the ISGEDR 2018 Ophthalmic Genetics Study Club to be held on Friday, October 26th at the amazing Ann & Robert H Lurie Children’s Hospital in Chicago.

    Our Hosts

    The 2018 OGSC meeting is hosted by Dr. Marilyn Mets and the Faculty of the Division of Ophthalmology at Lurie Children’s Hospital.

    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”

    Elias I. Traboulsi and
    Virginia (Ginny) M. Utz

    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.

    You may need to request to join the ISGEDR group on LInkedIn to gain access to this page.

    Follow ISGEDR on Twitter