Recognizing the KCNV2-Related Retinal Phenotype

Zelinger et al highlight the KCNV2-related retinal phenotype (“cone dystrophy with supranormal rod response”) as an underdiagnosed condition in the Israeli population. Out of 220 index cases of retinal dysfunction with predominant photopic involvement for whom the authors performed KCNV2 mutation analysis, 5 mutation-positive families were identified—for 2 “cone dystrophy with supranormal rod response” had been diagnosed before genetic testing and for 3 the specific diagnosis had not been suspected. Zelinger et al remind us that standard electroretinogram (ERG) testing of affected patients does not always show the classic supranormal rod response (Read more...)

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