Information on Genetic Diseases

Retina International

Foundations and Support Groups

Foundation Fighting Blindness
Foundation for Retina Research
National Marfan Foundation


European Retinal Disease Consortium

Genetic Testing


Electrophysiologic Testing

ISCEV papers on standards and testing


Leiden Open Variation Database

Interpretation of Sequence Variants

Sorting Tolerant From Intolerant (SIFT)

Polymorphism Phenotyping v2 (Polyphen – 2)


Basic Science Course in Ophthalmology, Columbia University – January 8 – February 2, 2018

The BSCO covers the Basic and Clinical Science Course from The Foundation of the American Academy of Ophthalmology – San Francisco, CA: Foundation of the American Academy of Ophthalmology Series. The course is four weeks in duration and will be held from January 8th – February 2nd, 2018 at the Columbia University Medical Center. The BSCO includes instruction in optics, a two-day orbital dissection lab, ocular anatomy and histology labs, a phacoemulsification wet-lab, a glaucoma surgery wet-lab, a hands-on imaging workshop, and two days of instruction in retinoscopy and refraction.

 Since 1941, the Edward Harkness Eye Institute of Columbia University has offered the BSCO, which while focusing on ophthalmology resident learning, has also has proven effective in communicating foundational knowledge and the latest scientific findings to the visual sciences community. The curriculum is revised annually to include the most recent scientific advances and controversial developments in the field, and is updated to respond to feedback from previous BSCO evaluations. An international faculty of more than 80 clinicians and scientists is chosen based on expertise, clarity of presentation, and visual aids. Just a few of the non-Columbia speakers who presented at BSCO 2016 were Professors Alan C. Bird (Moorfields), Scott Brodie (Mount Sinai), Ralph Eagle (Wills Eye), David Guyton (Johns Hopkins), Graham Holder (Moorfields), Andrew Lee (Methodist Hospital), Irene Maumenee (Johns Hopkins), and Lawrence Yannuzzi (VRMNY).

 More information on the BSCO can be found at the website:

Advance registration: The program will be held from January 8th to February 2nd, 2018. Fee is $2000US. After November 25th Fee is $2300US.

Contact information for the course:

Kenia de los Santos-Alexis, Course Manager
Columbia University

Department of Ophthalmology

630 West 168th St., Box 18

New York, NY 10032

Tel: (212) 305-0285

Fax: (212) 305-4987


XVIIIth International Symposium on Retinal Degeneration. September 3-8, 2018. Killarney, Ireland

The Travel Award application site is open now until the Deadline – May 18, 2018

Registration & Abstract submission site is now open. Abstract Deadline – June 29, 2018

In the last decade, there has been a burst of information and insight into molecular, genetic and cellular mechanisms underlying inherited and age-related retinal degenerations.  Moreover, there have been major advances in the pharmaceutical and gene- and cell-based therapeutic approaches, as well as in vision restoration.  One such example is the recent landmark FDA approval of the first AAV-based therapy for the treatment of RPE65-mediated inherited retinal dystrophies in humans.  The scientific program and venue of the XVIII International RD Symposium will provide an excellent forum:

  • To discuss the current state of knowledge on the pathophysiologic mechanisms of acquired, inherited, and age-related retinal degenerations, as well as new and developing therapeutic approaches.
  • To encourage the exchange of novel ideas among basic and clinician scientists and to meet and establish research collaborations with vision scientists from around the world.
  • To enhance the emerging careers of young investigators in retinal degeneration research by providing Travel Awards to attend the meeting.

Program: RD2018 will be organized into a series of Keynote lectures, platform presentations, and poster sessions as follows.

Keynote Lectures:

  • Mario Capecchi, PhD, Nobel Laureate (Nobel Prize in Physiology or Medicine 2007), University of Utah, Salt Lake City, UT, USA
  • Rando Allikmets, PhD, The William and Donna Acquavella Professor in the Departments of Ophthalmology and Pathology & Cell Biology, and Director of Research at the Harkness Eye Institute, Columbia University, New York, USA
  • James T. Handa, MD, Robert Bond Welch Professor, Johns Hopkins Wilmer Eye Institute, Baltimore, MD, USA
  • Peter Humphries, PhD, MRIA, Professor of Medical Molecular Genetics, Trinity College Dublin, Ireland

The Keynote speakers have been invited to provide a broad perspective on the causes and developing treatments of retinal degenerative diseases.

Platform Presentations: Platform sessions will be scheduled for 20 minutes each, followed by 10 minutes for discussion.  Speakers will be selected from submitted abstracts, and sessions will be organized around specific themes including:

  • Molecular and genetic mechanisms in photoreceptor degeneration
  • Age-related macular degeneration
  • New diagnostic techniques for retinal degenerations
  • Neuroprotection in the prevention of retinal degeneration
  • Gene therapy and the correction of gene defects
  • Stem cell and other cell-based approaches
  • Vision restoration
  • Newly emerging topics

Poster Sessions:  Investigators submitting abstracts not selected for a platform presentation are invited to present their research in well-attended poster sessions.  Posters will be available for viewing throughout the meeting, and there will be extended evening sessions devoted entirely to poster viewing and discussion.

Each attendee is encouraged to submit a chapter for publication in the proceedings volume.

Venue:  The XVIIIth International Symposium on Retinal Degeneration (RD2018) will be held in the beautiful town of Killarney, Ireland. All attendees will be housed in the marvelous Victorian hotel, The Great Southern(formerly named ‘The Malton’), in downtown Killarney, just opposite of the railway station. The Great Southern not only has unique rooms, exceptionally good food, and a very friendly staff, it also has a spacious conference center with comfortable seating, up-to-date audio-visual equipment, and sufficient space for poster sessions. This venue will allow for maximal interaction of all attendees during the meeting.  The meeting is a satellite of the XXIIIth Biennial Meeting of the International Society for Eye Research to be held September 9-13, 2018 in Belfast, Northern Ireland, UK

Travel Awards: We hope to be able to fully support 40-50 Travel Awards for students, post-doctoral fellows, and young faculty lower than the rank of Associate Professor. This provides the opportunity to meet and interact with world leaders in the field.

More Information and Registration Forms:  To learn more about the meeting, the venue, Travel Awards, registration and abstract submission, please visit the RD2018 web site:

Important Deadlines:

Travel Award applications:  May 18, 2018

Meeting and Hotel Registration:  June 29, 2018

            Online Abstract Submission:  June 29, 2018

Support:  As in all previous RD Symposia, RD2018 has received a generous pledge of support for travel awards from the Foundation Fighting Blindness, the BrightFocus Foundation, ProRetina Germany, and the Fritz Tobler Foundation.  Funding from additional sources is pending.

Women, underrepresented minorities, and people with disabilities are all encouraged to apply for Travel Awards and to attend the meeting.

We are excited about the RD2018 meeting and look forward to seeing you there.

RD Organizing Committee Local Organizing Committee
Cathy Bowes Rickman Peter Humphries
Christian Grimm Marian Humphries
Robert E. Anderson Jane Farrar
John D. Ash Matthew Campbell
Joe G. Hollyfield Paul Kenna
Matthew M. LaVail Laura Brady
Eric Pierce
Please forward this Second Announcement to any colleagues or trainees who may not have received it, and please ask them to register to receive additional announcements at the following web address: