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

NIH – National Eye Institute:
Postdoctoral Fellowship in Genetics and
Modeling of Developmental Eye Diseases

Postdoctoral Fellowship in Genetics and Modeling of Developmental Eye Diseases

A postdoctoral position is available immediately in the Pediatric, Developmental & Genetic Ophthalmology Section ( section) of the Ophthalmic Genetics and Visual Function Branch, NEI, National Institutes of Health (NIH), located in Bethesda, Maryland. The laboratory, headed by Dr. Brian Brooks, seeks to understand the genetic, molecular and developmental basis of inherited eye diseases such as uveal coloboma and oculocutaneous albinism that affect children. We focus on the molecular and cellular basis of optic fissure closure and retinal pigment epithelium (RPE) development with the aim to develop novel therapeutic approaches for these conditions.

This position offers exposure to multidisciplinary and cutting-edge developmental and stem cell research, and opportunities to collaborate closely with experts in genetics and translational research. The candidate will be leading/co-leading projects, designing experiments for investigating in vitro and in vivo models of disease, testing gene replacement and CRISPR-based gene editing approaches while working closely with collaborators and lab members. Opportunities for training in animal microsurgery as well as mentoring postbacs or summer students will be available based on interest.

•   Candidates must hold a Ph.D. or M.D./Ph.D. in cell biology, genetics, neuroscience, development or a related field, with less than 4 years since completion of their final degree;
•   Must have first authorship on at least one peer-reviewed publication;
•   Must be self-motivated and keen to develop and/or learn cutting-edge technologies;
•   Experience in stem cell manipulation and/or mouse and/or zebrafish genetics is a plus;
•   The ability to work as part of a cohesive group is important as we are a highly collaborative lab;
•   Must have excellent writing and communication skills.
•   Salary will be commensurate with education and experience. The position provides generous scientific resources, stipend support, and health benefits. U.S. citizens, U.S. permanent residents, and non-U.S. citizens are eligible to apply. Women and underrepresented minorities are particularly encouraged to apply.

To Apply:
Interested candidates should send an email with cover letter, curriculum vitae, bibliography, a paragraph of research goals and interests and contact information of three references to: Dr. Uma Neelathi (

For further information about working at the NIH, visit:

The NIH is dedicated to building a diverse community in its training and employment programs. DHHS, NIH, and NEI are Equal Opportunity Employers.

Welcome to the ISGEDR Website








ISGEDR Meeting - São Paulo, Brazil 2023 - Register NOW

ISGEDR Meeting - São Paulo, Brazil 2023

ISGEDR Meeting 2023 - SÃO PAULO, July 6-8, 2023

It is the distinct pleasure of the International Society for Genetic Eye Diseases and Retinoblastoma to invite you all to São Paulo for the ISGEDR 2023 MEETING

For the first time in South America, our biannual meeting will take place from July 6th to 8th, 2023 in cosmopolitan São Paulo, Brazil, at CUBO, Latin America’s biggest innovation, health tech startups and entrepreneurship hub.

Considering the success of the hybrid format of the 2021 ISGEDR meeting in Lausanne, the organizing and executive committees chose the same format for 2023.

We are delighted to announce the following named Lectureship presenters:

Michael Gorin, MD, PhD - The Franceschetti Lecturer
Professor David Cobrinik, MD, PhD - The Ellsworth Lecturer
Professor Frans Cremers, MD, PhD - The François Lecturer

Together with expert international speakers who will participate in the meeting, the attendees will have the chance to interact with clinicians and scientists who have whose research and/or clinical practice center on the diagnosis and management of patients with ophthalmic genetic disorders and retinoblastoma.

Please join us!

Juliana M Ferraz Sallum, MD, PhD   President - ISGEDR MEETING 2023

São Paulo, Brazil 2023 - Link to Meeting Registration

São Paulo, Brazil 2023 - Abstract Submissions


Opening: February 28, 2023
Deadline for Abstract Submission: April 15, 2023
Authors will be notified of the acceptance of their abstracts on April 30, 2023

Instructions and Notes:

Besides the outline information to be provided in the form below, please provide an Abstract  in PDF or Word format in the following Sections: Presenting Author, Email Address, Affiliation (to include Department, University, City and Country), Authors (maximum 10), Abstract Title, Paper Type, Purpose, Materials and Methods, Results, Conclusions.

    Upload Documents - doc/docx/xls/xlsx/pdf

    StoneRounds - web-based Inherited Retinal Diseases resource

    StoneRounds is a web-based resource ( for improving your knowledge of inherited retinal diseases.  

    It consists of an atlas of over 300 molecularly-confirmed cases, a “clinic simulator” in which you can pit your diagnostic skills against the computer (and get constructive feedback if you are wrong), some basic tutorials for beginners, and even a section of career advice for physicians and scientists (Success Camp).  The case content of StoneRounds also serves as the basis for live, Zoom-based clinical teaching sessions that anyone with an interest in inherited retinal disease is welcome to attend.  These teaching sessions are 60-90 minutes in length and are held an average of 4 times per month.  

    The schedule for the live sessions can be found at:  If you create a (free) account on the website you can choose to be reminded about upcoming sessions by email.

    Inherited Retinal Disease and Gene Therapy

    CALL FOR PAPERS – Inherited Retinal Disease and Gene Therapy
    The Saudi Journal of Ophthalmology (SJOPT), a peer reviewed quarterly publication in the field of ophthalmology, is planning a special/theme-based issue on Inherited Retinal Disease and Gene Therapy to be published in October-December 2023. Submission of review articles, original articles, and cases reports for consideration are welcome.
    Published in collaboration with Wolters & Kluwer/Medknow, SJOPT is the official publication of Saudi Ophthalmological Society (SOS). It is indexed with PubMed, SCOPUS, and Emerging Sources Citation Index (an off shoot of ISI).
    Please note that SJOPT does not charge authors for publishing articles and complete on-line access to articles is free.
    General author guidelines:
    The abstract should not be more than 250 words (unstructured for Review Article and structured for Original Article) with 4-5 keywords
    Article format:
    a) Title/First Page to include main title, running title, authors in order of their appearance and their affiliations, source(s) of support, acknowledgement, declarations, (if any), full details of the corresponding author
    b) Review Article: Main and running title, unstructured abstract, keywords, Introduction followed by the section titles depending upon the topic being reviewed with a Conclusion section at the end, References, Legends to figures and tables (if any)
    c) Original Article:  Main and running title, structured abstract (purpose, methods, results and conclusion), keywords, Introduction, Methods, Results, Discussion, Conclusion, References, Legends to figures and tables (if any)
    The manuscript should be approximately 3500-4000 words excluding abstract and references.
    Figures/Tables: Total number of figures and tables not to exceed 8. Figures to be preferably in color
    Manuscripts are to be submitted online []
    At the time of submission, kindly select “Inherited Retinal Disease and Gene Therapy” as Manuscript Type from the drop-down menu.
    The deadline for receiving the submission is July 4, 2023. The manuscript acceptance will be subject to the review by the guest editor and/or editorial board members.
    Best wishes
    Arif O. Khan MDCleveland Clinic Abu Dhabi, UAE
    Guest Editor, SJOPT;

    NIH K12 Vision Scientist Program
    Inherited Retinal Degeneration Fellowship

    NIH K12 Vision Scientist Program. Inherited Retinal Degeneration Fellowship.

    University of Pennsylvania

    Department of Ophthalmology, Scheie Eye Institute

    This fellowship is open only to US residents or citizens. Senior residents or subspecialty fellows who are finishing their training in June 2024 and available to start the fellowship in July or early August 2024 can apply. Ophthalmologists who are already in clinical practice are also eligible. This fellowship will have a focus on translational clinical-research and clinical exposure to the diagnosis and management of genetic eye diseases at the Retinal Degeneration Centers of the Scheie Eye Institute and The Children’s Hospital of Philadelphia.

    The fellowship can be supported by a K12 grant from the NIH/NEI. The candidate will be assessed by the K12 Program of the Dept. of Ophthalmology of the University of Pennsylvania. Acceptance will depend on availability of a slot and the candidates’ qualifications. The recipient will receive a salary and benefits at a PGY5 level of training. The fellow must be eligible for a full Pennsylvania license to practice medicine. K12 Scholars are permitted to spend up to 25% of their effort in patient care. The other 75% is for research that could involve seeing research patients or doing bench research.

    Interested physicians who chose to forgo involvement in direct patient care can still apply to the K12 program directly for a retinal degeneration research fellowship without a deadline. Similarly, this is a competitive fellowship position that depends on the availability of a position through the K12 program and on the qualifications of the candidate.

    Please contact Dr. Tomas S. Aleman directly for additional information at

    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 – 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 . 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

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

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

    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

    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.

    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