StoneRounds is a web-based resource (www.stonerounds.org) 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: https://stonerounds.org/teaching/schedule.  If you create a (free) account on the website you can choose to be reminded about upcoming sessions by email.

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 aleman@pennmedicine.upenn.edu.

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 – 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

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

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