ObjectiveTo investigate the current status of research in gene therapy for retinitis pigmentosa (RP) from 2005 to 2024. MethodsThe literature related to gene therapy for RP included in the Web of Science Core Collection dataset from January 1, 2005 to September 15, 2024 was retrieved and screened. The bibliometrix package of R software was used to analyze the annual trend of the number of publications, citation frequency, distribution of countries/regions of the literature, and distribution of journals containing the articles. CiteSpace software was used to perform keyword clustering analysis and the keywords bursts analysis. ResultsA total of 209 articles were included. There was an overall fluctuating upward trend of annual publications from 2005 to 2024, with the highest number of publications in 2023 at 26 (12.4%, 26/209), and the lowest number of publications in 2006 at 2 (0.9%, 2/209). There was an overall increasing trend in the frequency of citations to relevant literature. Corresponding authors from the United States had the highest total number of publications with 98 (46.9%, 98/209). Among authors, Hauswirth from the University of Florida, USA, had the most with 25 (12.0%, 25/209). Among institutions, Columbia University, USA, had the most with 55 (26.3%, 55/209). Among journals, Mol Ther had the most with 25 (12.0%, 25/209), and it had the highest 2023 impact factor of 12.1. Keyword clustering analysis yielded eight valid clusters, namely #0 P23H, #1 AAV, #2 PDE6B, #3 CRB1, #4 RPGR, #5 antisense oligonucleotide, #6 NR2E3, and #7 NRL, which intersected with each other with good continuity. The keywords bursts analysis showed that the keyword with the longest emergence time was RNAi, followed by PDE and PDE6. USH2A, CRB1, CRISPR Cas9, base editing, and ORF15 were keywords that emerged in recent years and were continuously studied. ConclusionsRP gene therapy research literature has shown an increasing trend from 2005 to 2024, with the highest number of publications from research organizations and scholars in the United States. Currently, studies focus on RHO, PDE6B, CRB1, RPGR, NR2E3, and NRL gene. In recent years, there has been a gradual increase in studies on USH2A, CRB1 genes, and the RPGR ORF15 region. CRISPR Cas9 and base editing gene therapy strategies are being developed.
Objective To evaluate the therapeutic effect of vitrectomy on bullous retinal detachment. Methods The clinical data of 7 patients (9 eyes) with bullous retinal detachment who had undergone vitrectomy due to useless photocoagulation were retrospectively analyzed. Bullous retinal detachment of the patients had been diagnosed by examination of slit-lamp microscope, three-mirror gonioscope, indirect ophthalmoscope, B-mode ultrasound, and fundus fluorescein angiography. All of the affected eyes underwent vitrectomy with closed triple incisions through the pars plana after release of subretinal liquid under the local anaesthesia. The cortex of vitreous body was taken out, and exsuction of subretinal liquid was carried out via retinal incision. Photocoagulation closed the incision and the effusion area of the retina, and intraocular filling matter was injected after exchange of air and liquid. The follow-up period lasted 3 months to 8 years with the average period of 47 months. Results Reattached retina was found in all of the affected eyes during the follow-up period. One eye underwent a second vitrectomy due to local retinal redetachment caused by a new retinal hole formed by the pull of pre-retinal proliferative membrane and a silicon vesicle entered the subretinal space, but the retina reattached after 1-year follow-up examination. The visual acuity impr oved in different degree after the operation in 8 eyes, but remained unchanged in 1 eye. Conclusion Vitrectomy for terminal bullous retinal detachment may promote the reattachment of retina safely and effectively, and save partial visual acuity of the affected eyes. (Chin J Ocul Fundus Dis, 2006, 22:299-301)
Objective To observe the ocular clinical features of infantile cytomegalovirus (CMV) infection. MethodsA retrospective clinical study. From March 2019 to July 2021, 876 eyes of 438 children with CMV infection who visited Department of Ophthalmology of Henan Provincial Children's Hospital were included in the study. Among them, there were 254 males and 184 females; the age ranged from 3 days to 11 months; the gestational weeks were 28 to 42 weeks; the birth weight was 1 120 to 8 900 g. There were 384 and 54 full-term and premature infants, respectively. Fundus examination was performed in 385 cases (770 eyes) after medical consultation; 53 cases (106 eyes) of premature infants were routinely screened. CMV retinitis (CMVR) was divided into granular type and fulminant type. Patients with CMV-related diseases with moderate to severe symptoms were given intravenous drip and/or oral ganciclovir; patients with severe fundus vasculitis were combined with intravitreal injection of ganciclovir. The follow-up period was from 4 to 28 months, and the characteristics of eye lesions, systemic comorbid diseases and treatment outcomes were observed. ResultsThere were 516 eyes of 258 cases with normal fundus (58.9%, 258/438); 291 eyes of 180 cases with CMVR (41.1%, 180/438), of which binocular and monocular were 111 (61.7%, 111/180) and 69 (38.3%, 69/180) cases. Among the 291 eyes of CMVR, 281 eyes (96.6%, 281/291) of granular type; yellow-white point-like opacity and/or retinal hemorrhage; 10 eyes (3.4%, 10/291) of fulminant type; fundus Showed a typical "cheese ketchup-like" and vascular white sheath-like changes. Among the 180 children with CMVR, 72 patients (118 eyes) were given systemic intravenous drip and/or oral ganciclovir; 5 patients (10 eyes) were given intravitreal ganciclovir, all of which were fulminant CMVR. At the last follow-up, fundus lesions regressed significantly in 100 eyes of 61 cases; 18 eyes of 11 cases had old lesions or uneven retinal pigment; 108 cases were not treated. ConclusionThe most common fundus manifestation of CMV infection in infants is granular retinitis, and fulminant retinitis is more severe, and the lesions can be significantly regressed after timely antiviral treatment.
Objective To investigate the expression of T cell receptor (TCR) Vβ8.3 gene on CD4+ T lymphocytes in the rats with experimental autoimmune uveoretinitis (EAU). Methods Eighteen Lewis rats were divided into EAU, complete Freund′s adjuvant, and the control group. Inter photoreceptor retinoid-binding protein (IRBP) R16 peptide was synthesized using Fmoc procedure for induction of EAU. Magnetic absorption cell sorting (MACS) me thod was used to isolate the CD4+T lymphocytes from the spleen of the rats. Flow cytometry was used to monitor the efficiency of isolation. The expression of TCR Vβ8.3 gene segment on CD4+T lymphocytes was determined by fluorescent quantitative polymerase chain reaction. Results EAU was successfully induced in the Lewis rats immunized with IRBP R16 peptide. The proportion of CD4+T lymphocytes isolated by means of MACS was statistically higher than that before isolation (P＜0.001). The expression of TCR Vβ8.3 gene segment on CD4+ T lymphocytes in EAU rats was significantly higher than that in the control (P＜0.05). Conclusions There is a predominant usage of antigen-specific TCR Vβ 8.3 gene in EAU rats induced by IR BP R16 peptide, which may serve as a target for immunotherapy of EAU. (Chin J Ocul Fundus Dis，2004，20：165-167)
ObjectiveTo observe the image characteristics of OCT in patients of acquired immunodeficiency syndrome (AIDS) with cytomegalovirus retinitis (CMVR).MethodsThirty-nine eyes of 26 patients of AIDS with CMVR diagnosed in Department of ophthalmology of Beijing Ditan Hospital Capital Medical University from January 2015 to December 2017 were included in this study. All the patients were males, with the mean age of 33.12±9.87 years. All the patients underwent the OCT examination by Spectralis HRA+OCT. The locations of scanning were macular, optical papilla and posterior pole of retina with retinitis. Typical images were saved and analyzed.ResultsThe OCT pathological changes of CMVR included increase of retinal thickness and reflex of retina, indiscernible retinal layers, irregularity or absent external limiting membrane and/or ellipsoid zone, hyperreflective spots, vitreous cells. Among 39 eyes, there were 6 eyes with strong point-like reflection in the outer layer of retina around the lesion, 31 eyes (79.49%) with strong point-like reflection in the full layer of retina, 25 eyes (64.10%) with lesion involved macular area, 34 eyes (87.17%) with vitreous cells.ConclusionsOCT images of the eyes with AIDS with CMVR were characterized by lesions involving the whole retina. Absent ellipsoid zone or structural changes can be seen in the affected areas and peripheral areas of the lesion.
ObjectiveTo comparatively analyze for the fundus characteristics of acquired immune deficiency syndrome (AIDS) with cytomegalovirus retinitis (CMVR) between first-visit and non-first-visit in ophthalmology.MethodsA retrospective study was performed for 22 patients (41 eyes) diagnosed as CMVR with AIDS by ophthalmology in the Affiliated Municipal Hospital of Xuzhou Medical University from July 2004 to September 2017. The patients were divided into two groups: one with the first-visit in ophthalmology (FVO) and the other with the first-visit in non-ophthalmology (FVNO). All patients underwent visual acuity, intraocular pressure, slit lamp microscope and indirect ophthalmoscope examinations. Thirty-nine eyes of 21 patients with clear refractive media were examined by color fundus photography, of which 5 patients were examined by FFA. Five patients examined by OCT and B-mode ultrasound. The CMVR were characterized as fulminant type or indolent type. All the 22 patients (41 eyes) except 2 patients (4 eyes) accepted highly active antiroviral therapy, and all patients were treated with ganciclovir intravenously. Nine patients (12 eyes) received intravitreal injection of ganciclovir, 7 patients (10 eyes) underwent vitrectomy because of retinal detachment, 6 patients (7 eyes) gave up surgery because of extensive retinal detachment, and the other 12 eyes did not undergo any eye surgery. All patients were followed for 6-58 months (average 23±39 months). The incidences and fundus characteristics of the patients with fulminant or indolent CMVR were compared and analyzed. Between the two groups, the difference of visual acuity and CD4+T cell count at the first vist and the last follow-up were analyzed by a t-test, and the macular involvement and spread of the two groups were compared by a chi-square test.ResultsFulminant CMVR showed dense yellow-white necrotic lesions along the great vessels with or without satellite lesions, while indolent CMVR showed sparse yellow-white granular lesions with a little bleeding. The concomitant signs included frost-like dendritic vascular sheath, retinal artery occlusion and optic disc edema. Fourteen eyes of 7 patients in FVO group were fulminant, including 2 patients (2 eyes) with retinal artery occlusion and 1 patient (two eyes) with optic disc edema. In FVNO group, there were 27 eyes of 15 patients, including 21 eyes of 13 cases identified as fulminant type and 6 eyes of 4 patients as indolent type. In the fulminant type, there were 4 patients (6 eyes) with frost-like dendritic vascular sheath, 10 patients (12 eyes) with retinal artery occlusion and 4 patients (4 eyes) with optic disc edema. There was no significant difference in initial visual acuity (t=－1.534, P=0.133), but there was a significant difference in visual acuity at the last follow-up (t=－3.420, P=0.001). There was no significant difference in CD4+ T cells between the two groups at the first visit (t=－0.902, P=0.378). The proportions of macular involvement and 3-4 quadrant involvement in FVO group were significantly higher than those in FVNO group (χ2=7.552, 7.865; P=0.006, 0.005).ConclusionFor AIDS patients with CMVR, the first-visit in ophthalmology showed more dense necrotic lesions involving macular and a wider range of lesions than the first-visit in non-ophthalmology.