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<p>The authors are grateful to Mohit Parekh from the Fondazione Banca degli Occhi del Veneto (FBOV) for the collection of human retina samples. The authors would also like to thank Manuela Dionisi (technician) and Vincenzo Nigro (Head) of the Next Generation Sequencing Facility (TIGEM). This work was supported by FondazioneTelethon Grant (TGM11SB2) to SB and (TGM11SB1) toDdB and to the EU FP7 Radiant project (305626) to DdB.</p>