Japan to Global Eye Genetics Consortium: Extending Research Collaboration for Inherited Eye Diseases

Japan Eye Genetics Consortium (JEGC) was established in 2011 to migrate research system to all-Japan structure for collecting phenotype-genotype information for inherited retinal diseases and other retinal diseases including hereditary optic neuropathy and hereditary glaucoma. Diagnostic team was assembled to maintain quality of diagnostic and to collect phenotype information to database in Tokyo Medical Center (TMC). Over the past 10 years, 1538 pedigree [2788 deoxyribonucleic acid (DNA) samples] was collected from 38 ophthalmology departments and eye hospitals. Whole exome analysis has improved diagnostic rate from ~17% in 2011 to 53% in 2021, with 27% of known variants, 18% of novel variants in known gene, 8% of potential novel disease-causing genes, and 47% of pedigree with unknown cause. Approximately 70% of Japanese patients were affected by novel mutation or by unknown cause. In 2014, Asian Eye Genetics Consortium (AEGC) was established by researchers from Hong Kong, India, Japan, and the US, later renamed to Global Eye Genetics Consortium (GEGC) to expand the idea of collaborative research on rare genetic eye diseases in Asia, Middle East, Africa, and South America. GEGC phenotype-genotype database, GenEye, was constructed to collect and catalog genetic eye diseases at global scale. Over 200 members from 30 countries, GEGC now has 200 members from 30 continents, performing scientific programs, young investigator visiting program, and GEGC organized session at the meetings of the Asia-Pacific Academy of Ophthalmology (APAO), The Association for Research in Vision and Ophthalmology (ARVO), All India Ophthalmological Society (AIOS), World Ophthalmology Congress (WOC), and International Society for Eye Research (ISER).