Postmortem Retinal Structural and Metabolic Analysis After Human Embryonic Stem Cell–Derived Retinal Pigment Epithelium Transplantation in a Patient With Stargardt Disease

Abstract

Purpose: Stargardt disease is an inherited form of retinal degeneration characterized by early-onset central vision loss. This report describes the long-term retinal histologic characteristics of a patient with Stargardt disease after human embryonic stem cell–derived retinal pigment epithelium (hESC-RPE) transplantation. Methods: Eyes were obtained postmortem from an 80-year-old legally blind male patient with Stargardt disease. The patient had previously undergone hESC-RPE transplantation of his left eye, and the right eye (untransplanted) served as a control. Fluorescence lifetime imaging microscopy was used to study retinal structure and metabolic activity. Staining of the retina for lipofuscin was performed using the Armed Forces Institute of Pathology method. Results: Metabolic analysis showed that the macular area had more oxidative phosphorylation relative to the mid-peripheral retina, in both the transplanted and untransplanted eye. Melanin-laden RPE cells were detected in the transplanted eye, which correlated with a pigment band present on fundus images post–hESC-RPE transplantation. Conclusions: This case description illustrates the long-term survival of subretinal hESC-RPE cells post-transplantation in a patient with Stargardt disease.