Challenges in Elucidating the Genetics of Diabetic Retinopathy

IMPORTANCE In the past decade, significant progress in genonlic rneclicine and technologic developments has revolutionized our approach to common complex disorders in rliany areas of medicine, including ophthalmology. A disorder that still needs major genetic progress is diabetic retinc)pathy (DR), one of the leading causes of blindness in adults. OBJECTIVE To Perform a literature review, Present the current findings, and highlight some challenges DR genetics DESIGN SETTING AND PARTICPENTS genetic factors in DR, including heritability be m siPAPhl'errSitaPyesr scores, twin a.th r ug family candidate gkey S iGN, EETTEID n, AN PARTEI h literature review of the gene studies' linkage studies, and genome-wide asstowcilantisotundsiteusd f ieas (GWAss). MAIN OUTCOME MEASURES Environmental and genetic factors for DR. RESULTS Although there is clear demonstration of a genetic contribution in the development and progression of DR, the identification of susceptibility loci through candidate gene approaches, linkage studies, and GWASs is still in its infancy. The greatest obstacles remain a lack of power because of small sample size of available studies and a lack of phenotype standardization. CONELLSIONS AND ELEVANCE The field of DR genetics is still in its infancy arid is a challenge because of the complexity of the disease. This review outlines sor-ne strategies and lessons for futi,ire investigation to improve our understanding of this complex genetic disorder.