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Aims/Purpose: Although EYS‐associated retinal disease is normally described as a photoreceptor dysfunction, the natural role of the EYS protein is not yet clearly defined and it may also affect the RPE, as has been previously shown for other genes causing retinal disease. We have studied the impact of EYS gene mutations on the maturation and function of an RPE cellular model obtained from a patient.

Methods: RPE was differentiated in vitro from a patient‐derived iPSC line and characterized. Morphological assessment of EYS‐RPE included light microscopy and electron microscopy. We studied gene expression by rt qPCR and transcriptomic analysis and cellular localization of the main RPE markers by immunofluorescence. For physiology, we tested the transepithelial resistance, phagocytic activity and secretion of PEDF and VEGF.

Results: Microscopic phenotyping of the EYS‐RPE shows areas where cells …