KCNV2 -associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
Thales Antonio Cabral de GuimaraesMichalis GeorgiouAnthony G RobsonKaoru FujinamiAjoy VincentFadi NasserSamer KhatebOmar A MahrooNikolas PontikosMaurício E VargasAlberta A H J ThiadensEmanuel R de CarvalhoXuan-Than-An NguyenGavin ArnoYu Fujinami-YokokawaXiao LiuKazushige TsunodaTakaaki HayashiBelén Jiménez-RolandoMaria Inmaculada Martin-MeridaAlmudena Avila-FernandezEster Carreño SalasBlanca Garcia-SandovalCarmen AyusoDror SharonSusanne KohlRachel M HuckfeldtEyal BaninMark E PennesiArif O KhanBernd WissingerAndrew R WebsterElise HeonCamiel J F BoonEberhard ZrennerMichel MichaelidesPublished in: The British journal of ophthalmology (2023)
Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials.