A Peripherin 2 (Prph2) retinal disease workshop is scheduled with international researchers, clinicians and patients, supported by Foundation Fighting Blindness

Researchers, clinicians and patients & families are to support a workshop in La Jolla, San Diego (March 29th-31st) for those focused on finding treatments on PRPH2 (Peripherin 2 (Prph2) associated with a multitude of retinal diseases ranging from autosomal dominant retinitis pigmentosa (ADRP) to macular degeneration (MD).  The initiative, supported by Foundation Fighting Blindness, is in partnership with the Nixon Visions Foundation and the Shiley Eye Institute at the University of California and the workshop “is designed to bring together leading experts from academia and industry, to discuss openly, and in detail, what is known about PRPH2 disease pathology, disease models, clinical characteristics, and therapeutic approaches”.

Peripherin 2 (Prph2) (formally known as retinal degeneration slow, RDS) is a photoreceptor-specific transmembrane protein present in the outer segment (OS) rims of rod and cone photoreceptors. The structural protein is critical for the development and integrity of the photoreceptors, without which vision may be severely compromised.  Mutations in the PRPH2 gene primarily cause autosomal dominant retinitis pigmentosa (RP) or cone dominant macular dystrophies and the mutations may lead to a failure of initializing outer segment formation in rods, and potentially leading to a phenotype of disorganized cones. In addition, the associated phenotypes show a high degree of variability of onset and the phenotype can differ between patients carrying the same mutation. Over 175 pathogenic mutations in the PRPH2 gene are linked to various retinal diseases and the incidence of disease arising from PRPH2 mutations are estimated of between 5% – 10% of inherited retinal degenerations.

Foundation Fighting Blindness have invited affected individuals and their families in order to share their experiences with PRPH2 disease and to hear recent developments for care, treatment, and strategies for therapies. Claire M. Gelfman, PhD, chief scientific officer, Foundation Fighting Blindness, along with Radha Ayyagari, PhD, Shiley Eye Institute, University of California, San Diego (UCSD), and Shyamanga Borooah, MD, PhD, Shiley Eye Institute, University of California, San Diego (UCSD), will serve as workshop co-chairs.  According to the co-chairs of the meeting, the main goal of the workshop “is to bring awareness and build community across PRPH2-related retinal disease and accelerate related research on biological and therapeutic approaches”. These goals include raising awareness of PRPH2 mutations and build community, facilitating knowledge sharing and identifying key gaps and next steps and finally serve as a launching point for high-impact research funding initiatives.  The workshop will be held in-person on March 29-31, 2023, at the Hilton La Jolla Torrey Pines in San Diego, CA and further information can be found at FFB (https://www.fightingblindness.org/prph2workshop).