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

Ophthalmic Genetics, Volume 43, Issue 5, October 2022
is now available online on Taylor & Francis Online

Click the above image to go direct to Taylor & Francis Online

Ophthalmic Genetics Study Club 2022 HYBRID Meeting Registration


Register now for the upcoming OGSC 2022 HYBRID Meeting to be held on Thursday, 29th September, 2022.

Ophthalmic Genetics Study Club 2022
Thursday, 29th September, 2022
This year we shall be going Hybrid. Please note you are purchasing a Virtual Registration
8:00 am and 5:00 pm USA Chicago Local Time (CDT)
We plan on FOUR presentations per hour with an hour lunch break at noon


Ophthalmic Genetics Study Club Hybrid Meeting
Thursday, September 29th, 2022

Ophthalmic Genetics Study Club Hybrid Meeting

Thursday, September 29th, 2022

Hancock Building close walk from Children’s Hospital
875 N. Michigan Avenue, 14th Floor, Room 108

Moderators: Elias I. Traboulsi & Virginia M. Utz

This year’s meeting is dedicated to Dr. A. Linn Murphree





8:30 – 12:00 – SESSION 1

8:30 – Virtual Presentation

Expanding the spectrum of Oculocutaneous Albinism: does isolated foveal hypoplasia really exists?
Giacomo Bacci, MD, PhD (Staff), Meyer Children’s Hospital, Fi, Italy

The Management of Inherited Retinal Disease by an Ophthalmic Genetic Service: An Analysis of Provider Referral Patterns, Delays in Diagnosis and the Diagnostic Yield of Genetic Testing
Natario Couser, MD, PhD (Staff), Virginia Commonwealth University


A woman referred for evaluation of Stargardt disease
Arif Khan, MD, Cleveland Clinic AbuDhabi


The problem of monocular cases of inherited retinal disease
Scott E. Brodie, MD, NYU Langone Health

Right disease, wrong gene or wrong gene, right disease
Alex V. Levin, MD, MHSc, FAAP, FAAO, FRCSC, Flaum Eye Institute

Use of VEP in Inherited Retinal Degenerations
Arlene V. Drack, MD, University of Iowa

10:00  Virtual Presentation
Multimodal imaging characteristics and correlation with genetic profile of achromatopsia in North Indian population.profile of achromatopsia in North Indian population.
Savleen Kaur, MD, Department Of Ophthalmology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India

10:15   Virtual Presentation
Registry of 85 informative south Asian pedigrees with primary concomitant strabismus: A meta-analysis
Zia Chaudhuri, MD, LHMC & Associated Hospitals, PGIMER & Dr. RML Hospital, New Delhi, India

Repeatability of a Truncated Visual Field Protocol in Pediatric Inherited Retina Disease Patients
Mitchell Jacobs, MD, University of Kentucky

Case Presentation
Meghan DeBenedictis, CGC, MEd, Cole Eye Institute

In Honor of A. Linn Murphree
Janey Wiggs, MD, PhD, MEEI, Harvard Medical School

12:00   LUNCH

1:00 – 4:45 – SESSION 2

Case Presentation
Rachel Huckfeldt, MD, MEEI, Harvard Medical School

1:15   Virtual Presentation
Case Presentation
Rebecca Procopio, MD, Wills Eye Hospital

1:30   Virtual Presentation
Case Presentation
Sarah Chorfi, MD, MEEI, Harvard Medical School

Gene independent approaches to cone photoreceptor survival and rescue in rod cone dystrophies
Daniel Chung, DO, Sparing Vision

Case Presentation
Jose Pulido, MD, Wills Eye Hospital

2:15   Virtual Presentation
Off-Label Voretigene Neparvovec-rzyl for Dominant RPE65 Dystrophy
Robert Sisk, MD, University of Cincinnatti

RPE65 Gene Therapy in Saudi Arabia
Selwa Al-Hazzaa, MD, Al-Faisal University

2:45   Virtual Presentation
Variant Classification and Reporting Differences Can Lead to Variable Test Yield on Retinal Dystrophy Panels
Diana Brightman, Ph.D, MS, CGC, Cincinnati Children’s Hospital

Case Presentation
Jennifer Galvin, MD, Yale New Haven Hospital

3:15   Virtual Presentation

Genetic Causes for IRDS in Ethiopean Jews
Miriam Ehrenberg, MD, Schneider Children’s Medical Center, Israel

Brothers with optic neuropathy: LHON or not?
Lev Prasov, MD, University of Michigan 

Isolated ectopia lentis in Polynesian patients
Sarah Hull, MD, Auckland Eye New Zealand

A “Spleenided Case!”
Kimberly Stepien. MS, CGC, University of Wisconsin 

PIEZO1 and PIEZO2 Pathogenic Variants Identified in Primary Congenital Glaucoma
Terry Young, MD, University of Wisconsin – Madison, School of Medicine and Public Health

Case Presentation
Virginia Utz, MD, Cincinnati Children’s Hospital

4:45 – 5:00 – BUSINESS MEETING
Proposed Ophthalmic Genetics Study Club New Members for 2022: To be voted on during the business meeting.

OGSC 2022 Hybrid Meeting – Abstract Submission Form – Closed

Abstract Submission Form – Closed

Abstract Submission Deadline is Friday, 15th July


Ophthalmic Genetics Study Club (OGSC)
HYBRID Meeting

LIMITED in person seating to first 40 registrants ONLY

Thursday, September 29, 2022

Hancock Building close walk from Children’s Hospital
875 N. Michigan Avenue, 14th Floor, Room 108

NEED TO DO: Please let us know if you are planning to attend in person or virtually. We can only accommodate 40 in person registrants. We will make a list of the first 40 registrants. You can also send a title of your proposed presentation at this time to We will let you know ASAP if you will present.

Abstract Submission Form and Virtual Registration Form below:



Vice-Chair for Education
Cole Eye Institute
Cleveland Clinic

i32, 9500 Euclid Avenue
Cleveland, OH 44195
Office: (216) 444-4363
Fax: (216) 445-2226
Cell: (216) 956-0892

Ophthalmic Genetics Study Club 2022 HYBRID Meeting Registration


Register now for the upcoming OGSC 2022 HYBRID Meeting to be held on Thursday, 29th September, 2022.

Ophthalmic Genetics Study Club 2022
Thursday, 29th September, 2022
This year we shall be going Hybrid. Please note you are purchasing a Virtual Registration
8:00 am and 5:00 pm USA Chicago Local Time (CDT)
We plan on FOUR presentations per hour with an hour lunch break at noon


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:


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


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 ( 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
  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
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