Welcome to the ISGEDR Website


The International Society for Genetic Eye Diseases and Retinoblastoma ISGEDR brings together individuals interested in the field of genetic diseases of the eye and in Retinoblastoma. • To provide a forum for researchers in the field of genetic diseases of the eye to share information. • To promote international collaborations in the study of genetic diseases of the eye and in Retinoblastoma. • To disseminate scientific knowledge through international conferences and through its official publication, Ophthalmic Genetics

ISGEDR and the Scientific Community at
Large Mourn the Loss of Dr Samuel Jacobson

Samuel G. Jacobson, MD, PhD, William C. Frayer Professor of Ophthalmology, served as director of the Center for Hereditary Retinal Degenerations, which he established at Scheie Eye Institute in 1995. Dr. Jacobson, in his 40+ year career in science and medicine, distinguished himself as a caring and compassionate physician, and a world-class scientist. He entered the field of inherited retinal diseases when clinical specialists were rare, there was little medical or scientific interest in genetic blindness, and there were no treatments. Over decades, he advanced understanding of the molecular mechanisms of these disorders. He was a pioneer in the application of gene-based and mechanism-driven therapies for diseases previously considered as incurable. During his tenure, he trained many clinicians currently working in the field of retinal degenerations, and he has been the recipient of major awards in visual science.  He is survived by his wife, Jean, daughter, Maxine, and brother, Fruman (Marian). Funeral services will be private. The family requests in lieu of flowers, donations be sent to the Eugenia R. Jacobson and Max M. Jacobson, M.D. Memorial Fund at the University of Illinois Foundation (visit give.uic.edu – Fund Number 12772236), or to the charity of your choice.

Cole Eye Institute – Genetics Fellowship

Cole Eye Institute – Eye Genetics Fellowship

The Cole Eye Institute At Cleveland Clinic Is Pleased To Offer A One-Year Fellowship In Ophthalmic Genetics Starting In July 2023.

This one-time fellowship is open to senior residents who are finishing their training in June 2023 and available to start the fellowship in July/August 2023, and to other ophthalmologists who are completing fellowships in any ophthalmology subspecialty such as pediatric ophthalmology, medical and/or surgical retina, glaucoma, or neuro-ophthalmology. Ophthalmologists who are already in clinical practice are also eligible. The fellowship is supported by a grant from the American College of Medical Genetics and the recipient will receive a salary at the PGY5 level of training as well as other benefits identical to those of all other fellows at the Cleveland Clinic. The fellow must be eligible for a full Ohio license to practice medicine. Please contact Dr. Traboulsi directly for additional information at traboue@ccf.org . This unique fellowship experience has been planned to provide the candidate with an immersive, competency-directed curriculum and clinical experience so she/he is ready to take care of patients with genetically determined eye diseases and integrate this practice in academic institutions.

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

Advances in Ophthalmic Genetics and Gene Therapy

King Saud University in Riyadh, Saudi Arabia
Department of Ophthalmology Hybrid 48th Seminar

King Saud University in Riyadh, Saudi Arabia invite you to the Department of Ophthalmology Hybrid 48th Seminar,
Advances in Ophthalmic Genetics and Gene Therapy. Tuesday, 1st November, 2022.

Scan above QR codes for Agenda and Registration

Next ISGEDR Meeting in São Paulo, Brazil – Renaissance Hotel
Save the date: July 6-8th, 2023

Next ISGEDR Meeting in São Paulo, Brazil – Renaissance Hotel – Save the date: July 6-8th, 2023

Further information coming SOON

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 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.

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


Revised Announcement from ACMG
Next Generation Fellowship in Ophthalmic Genetics

ACMG Foundation Offering Next Generation Fellowship in Ophthalmic Genetics


The American College of Medical Genetics and Genomics (ACMG) Foundation for Genetic and Genomic Medicine is funding a one-year clinical fellowship training program in Ophthalmic Genetics. This program  will focus on the evaluation, diagnosis and management of patients with genetic eye diseases. The Fellow chosen for this award will gain clinical experience in diagnosing and managing patients with genetic eye disorders and will build their understanding of other genetically determined medical conditions.

Each year, the ACMG Foundation for Genetic and Genomic Medicine grants its “Next Generation Fellowship Awards” to promising early career professionals in a range of medical genetics and genomics specialties. This program has been established to address a shortage of medical genetics experts needed to diagnose and treat patients with genetic disorders. To date, the program has funded a total of 60 years of study in genetic and genomic medicine to highly qualified applicants.

All institutions are encouraged to apply, including those who have or have not participated in the past. Institutions can apply until September 16, 2022. There will be a deadline of December 1, 2022, for the grantee institution to designate the fellow who be the recipient of the fellowship award the following July. If none are identified, the award will then be given to the second institution in line on the ranked list of potential recipient institutions. 

Applying Institutions must be fully accredited by the Accreditation Council for Graduate Medical Education (ACGME). The qualified ophthalmologist candidate selected for the program must hold an MD or equivalent degree and should have successfully completed a residency in ophthalmology in an ACGME accredited training program or be in their final year (PGY4) of study to become an ophthalmologist.

The amount of the Award is $75,000 to cover salary and benefits of the fellow for a full academic year.

For a detailed timeline for all Next Generation Fellowship awards click here. If you have any questions, please contact ACMG Foundation staff.

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 wongs1@ccf.org. 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

Notice:  Inaugural A Linn Murphree Lecture

Dear all:
On Friday, May 13th, at 9 am PST, Dr. Francis Munier — who trained with Linn at CHLA – will give the inaugural A. Linn Murphree Lecture on the treatment of Aqueous Seeding in Retinoblastoma at CHLA in the Saban auditorium. This lecture can also be viewed virtually, and everyone is broadly invited to attend. Click here for Flyer.
Click here to: Join WebEx.

Password: letmein123    (5386346 from phones)

Phone: 1-415-655-0003

Access code: 2457 542 6088

On Saturday, May 14th, at 3:30 pm PST, a celebration of life will be held at All Saints Church in Pasadena. Refreshments and a community gathering will follow.

Click here to join: Live Stream.
Or copy and paste the following URL into your browser: https://allsaints-pas.org/live-stream.
Jesse Berry, on behalf of the ISOO Executive Committee

UCLA – David Geffen School of Medicine – Senior Faculty Position


The UCLA Stein Eye Institute and Department of Ophthalmology invite applications for a tenured, fulltime faculty position at the level of full professor to serve as director of the UCLA J. Bronwyn Bateman Center for Ocular Genetics.

Click HERE to download further information.

Celebration of Life:  A. Linn Murphree, MD

International Society of Ocular Oncology Announcement:  Celebration of Life: A. Linn Murphree, MD

A. Linn Murphree (right) with Francis Munier in Lausanne, February 2016

Dear All:

We will gather together as family, friends, and colleagues to celebrate the life and legacy of 

A. Linn Murphree, MD

Saturday May 14th, 2022 3:30 pm
With refreshments to follow

All Saints Church
132 N. Euclid Avenue Pasadena, CA

There will be a virtual option for attendees unable to travel, this will be shared closer to the event

In Memoriam:  Dr A Linn Murphree

A. Linn Murphree (right) with Francis Munier in Lausanne, February 2016

A. Linn Murphree (right) with Francis Munier in Lausanne, February 2016


As president and on behalf of the ISGEDR I regret to share the sad news that A. Linn Murphree passed peacefully on March 9th 2022. He was one of the co-founders of our Society after the merge of two former groups, namely the International Symposium on Retinoblastoma and the International Society for Genetic Eye Diseases. He remained a faithful pillar of ISGEDR and was honored by the Ellsworth Lecture in Whistler in 2005.

Linn’s legacy to the field of retinoblastoma is unrivaled. He belongs to the very rare category of clinician scientists who impacted both basic knowledge of a disease and its therapeutic management. We owe to Linn the historical co-discovery of the first human anti-oncogene by cloning the RB1 gene, the kind of achievement typically honored by a Nobel Prize. This contribution was finally recognized in 2018 with the Helen Keller Award, more than 30 years later. Linn will also be remembered as one of the pioneers of systemic chemotherapy in the 1990s, when external beam radiotherapy became contra-indicated in the context of retinoblastoma. He also implemented innovative therapies, such as chemo-thermotherapy capitalizing on the synergic effect of carboplatin and heath generated by trans-pupillary diode-laser. Linn spent his entire career at Children’s Hospital Los Angeles University of Southern California, where he was appointed Professor of Ophthalmology and Director of the Retinoblastoma Program.

Linn dedicated his life to retinoblastoma by saving hundreds of children from death and blindness, as well as by training a generation of ocular oncologists now practicing around the world. As a former fellow, I consider myself as one of his spiritual sons and I am privileged to perpetuate his heritage.

Francis L. Munier
President, ISGEDR

OGSC 2021 – Prof Irene Maumenee remembers Dr Marilyn Miller

Elias Traboulsi introduces Professor Irene Maumenee’s tribute to our much missed colleague and friend Dr Marilyn Miller

Dr Marilyn Miller
Special Lecture

Dr Arlene Drack honoring the memory of Dr Marilyn Miller, a member of the OGSC since the early 1980s with a Special Lecture

Ophthalmic Genetics Study Club 2021 Meeting – SOLD OUT


Register now for the upcoming OGSC 2021 Meeting to be held virtually on Thursday, 11th November, 2021.

Ophthalmic Genetics Study Club 2022
Thursday, 29th September, 2022
Hancock Building close walk from Children’s Hospital
875 N. Michigan Avenue, 14th Floor, Room 108
This year we shall be going Hybrid. Please note you are purchasing an In Person 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


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 8:30 am US Eastern time and will end at 4:30 pm with an hour break for lunch at noon. This will allow for seven 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 28 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

Lausanne 2021 – Slide Show

Not a Member – JOIN NOW to benefit from Member Discount

You can now purchase your ISGEDR Annual Membership including Renewals right here using our Secure Store below.

Benefits of Membership:

As a benefit of your membership you will receive an electronic subscription to Ophthalmic Genetics, the official publication of the Society.

Additionally, you will eligible for reduced registration fee at the bi-annual meeting. To purchase a membership, click on correct Membership Plan and complete your purchase.

“Coming Soon… the 45th Meeting of the Ophthalmic Genetics Study Club”

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

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

“ISGEDR Joint Meeting 2021 Lausanne was a wonderful experience”

Francis Munier President of ISGEDR