We assessed the feasibility of transplanting a sheet of retinal pigment epithelial (RPE) cells differentiated from induced pluripotent stem cells (iPSCs) in a patient with neovascular age-related macular degeneration. The iPSCs were generated from skin fibroblasts obtained from two patients with advanced neovascular age-related macular degeneration and were differentiated into RPE cells. The RPE cells and the iPSCs from which they were derived were subject to extensive testing. A surgery that included the removal of the neovascular membrane and transplantation of the autologous iPSC-derived RPE cell sheet under the retina was performed in one of the patients. At 1 year after surgery, the transplanted sheet remained intact, best corrected visual acuity had not improved or worsened, and cystoid macular edema was present. (Funded by Highway Program for Realization of Regenerative Medicine and others; University Hospital Medical Information Network Clinical Trials Registry [UMIN-CTR] number, UMIN000011929 .).
ABSTRACT.Purpose: To describe the clinical characteristics of a Japanese male patient with enhanced S-cone syndrome (ESCS) and investigate the existence of mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor. Methods: Fundus examinations, fluorescein angiography, colour vision tests, spectral sensitivity, and full-field and spectral electroretinography were performed. Mutation screening of the NR2E3 gene was performed with polymerase chain reaction (PCR) amplification and direct sequencing. Results: We identified a novel homozygous mutation (c.1048C > T), that converts glutamine (CAA) to a termination codon (TAA) at amino acid position 350. The subject's unaffected parents were heterozygous for the mutation, consistent with autosomal recessive transmission. The electroretinographic findings revealed that the patient had neither rod nor 30-Hz flicker responses but did have cone responses with large a-wave and low b-wave amplitudes, similar to the rod-plus-cone responses, and also substantial short wavelength-sensitive (S) cone and extremely diminished long/middle wavelength-sensitive (L/M) cone responses. In the right eye, spectral sensitivity in the fovea revealed both functional S-cone and remarkably reduced L-and M-cone sensitivities, which was compatible with the decreased visual acuity (VA) and red/green colour vision defects noted in this eye. In contrast, the patient had good VA and normal red/green colour vision in the left eye. Conclusion: The nonsense mutation results in a truncated NR2E3 protein lacking 61 amino acids within the ligand-binding domain (LBD) that consists of 190 amino acids of the C-terminus end. Therefore, null function of the LBD is likely to cause ESCS in the patient. The clinical findings for this patient suggest that his left eye, with its functional L/M-and S-cones, was at an earlier stage of the syndrome than his right eye.
PurposeThe purpose of this study was to compare perioperative intraocular pressures (IOPs) in 25- or 27-gauge microincision vitrectomy surgery (MIVS) and to evaluate the stability of postoperative sclerotomy closure.Materials and methodsThis is a retrospective review of 147 eyes treated for epiretinal membrane by using 25- or 27-gauge MIVS as the initial vitrectomy (25-gauge phacovitrectomy [25-P group]: 73 eyes, 25-gauge vitrectomy alone [25-A group]: 15 eyes, 27-gauge phacovitrectomy [27-P group]: 47 eyes, and 27-gauge vitrectomy alone [27-A group]: 12 eyes). Statistical analyses of perioperative IOPs on preoperative day (PreOp), postoperative day (POD)1, POD2, postoperative week 1, and postoperative month 1 were performed.ResultsAll self-sealing sclerotomies were obtained without gas tamponade at the end of surgery. Also, no significant differences were noted in the age and axial length among the 4 groups and in the surgical time between 25-P and 27-P groups and between 25-A and 27-A groups. Significant decreases in IOP were found at POD1 and POD2 in the 25-P, 25-A, and 27-P groups compared with PreOP, but not in the 27-A group.ConclusionEven though surgeons confirm that there is no leakage from sutureless sclerotomy and that a normal IOP is preserved at the end of 25- or 27-gauge MIVS, there is a possibility of postoperative sclerotomy leakage on the day of the surgery. Furthermore, postoperative sclerotomy self-sealing of the MIVS in previous intraocular lens implantation cases is considered to be acquired easily than that in phacovitrectomy.
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