Morning glory syndrome (MGS) is a congenital optic disc anomaly. The characteristic ophthalmoscopic findings consist of a generally enlarged, funnel-shaped and excavated optic disc, surrounded by an elevated annulus of chorioretinal pigment disturbance, with a central glial tuft, multiple narrow branches of retina vessels radiating from the disc. There are peripheral non-perfusion retinal areas in most cases. The pathogenesis of MGS remains unclear. MGS might be associated with many ocular and systemic abnormalities, involving facial, central nervous, cerebrovascular and endocrine systems. Persistent hyperplastic primary vitreous and retinal detachments (RD) are the most common ocular complications of MGS. The mechanism RD in MGS is unclear. Vitrectomy with long-acting gas or silicone tamponade and photocoagulation around the breaks or the enlarged disc might be efficient for rhegmatogenous RD of MGS. Early diagnosis is crucial for recognition and treatment of the ocular and systemic complications, and maintenance of the visual function.
Diabetic retinopathy (DR) is a common ocular complication in diabetic patients, which is chronic and progressive and seriously impairs visual acuity. The rapid occurrence and progress of cataract in diabetic patients is also one of the important reasons for visual impairment in DR patients. Compared with non-diabetic patients, diabetic patients have higher risk of complications after cataract surgery. Studies have shown that anti-vascular endothelial growth factor (VEGF) therapy after cataract surgery can prevent the aggravation of diabetic macular edema in DR patients. However, due to the lack of systematic review of the clinical effect of anti-VEGF drugs in DR patients undergoing cataract surgery, the use of anti-VEGF drugs is relatively conservative in clinic. It is believed that with the deepening of research and the progress of clinical trials, the wide application of anti-VEGF drugs in clinical practice is expected to provide more accurate and effective treatment for DR patients in the future.
Retinopathy of prematurity (ROP) is a proliferative vascular retinal disease. Cryotherapy, laser photocoagulation, intravitreal injection of anti-vascular endothelial growth factor, scleral buckling surgery and vitrectomy are the main treatments. Treated with cryotherapy or laser photocoagulation or intravitreal injection of anti-vascular endothelial growth factor, patients with a history of ROP have thicker foveas, and the morphology of the fovea and the development of the retinal vessels in the macular area are affected, resulting in abnormal vision development. However, the specific mechanisms by which different treatments of ROP affecting the development of the macula are not yet clear. It still need further study with large samples to verify and explore, whether changes in the levels of intraocular vascular endothelial growth factor changing the process of normal macular development and how the abnormal development of the macula affects visual function.
Objective To construct the expression vector of HLA-G-shRNA and investigate the effect of HLA-GshRNA from NK cell lysis. Methods Four HLA-G shRNA plasmids were constructed and transiently transfected to Bel-7402 cell lines， the levels of mRNA and protein of HLA-G were detected by Real-Time PCR and Western blot. The cytotoxicity of NK-92MI cells against the transfected cells was analyzed by LDH releasing assay. Results The gel electrophoresis and sequencing showed that the inserted sequence was identical to the one which we designed, and no aberrations such as mutation，deletion or insertion occurred. The expressions of HLA-G confirmed by Real Time-PCR and Western blot were significantly down-regulated. Bel-7402 cell lines transfected HLA-G shRNA showed higher lytic activity （P＜0.01）. After KIR2DL4 receptor blocked，lytic activity of NK-92 MI cell were decreased （P＜0.01）. Conclusions HLA-G shRNA plasmids are successfully constructed and HLA-G down-regulated can increase NK cytolysis against Bel-7402 cell. After HLA-G combines with KIR2DL4 receptor at the surface of NK cells， the inhibition effect is transferred.
Objective To investigate the clinical manifestations and gene mutation of a pedigree with retinal lattice degeneration and granular corneal dystrophy (GCD) type 2. Methods Ten members in 3 generations of a pedigree with retinal lattice degeneration and GCD2 were included in the study, including 6 patients (3 males and 3 females) and 4 healthy family members. All members underwent visual acuity, slit lamp microscope, three-mirror lens, fundus color photography, optical coherence tomography, and corneal endothelial cells counting. Genomic DNA was extracted from peripheral venous blood (2 ml) from all the subjects and their spouses, who had no related inherited diseases. The next generation sequencing method was used to detect the mutation sites of transforming growth factor β (TGFBI), and all results underwent Sanger verification. Results Among the 12 eyes of 6 patients, the visual acuity was FC/20 cm-1.0. In the superficial central corneal stroma, snowflake-like deposits were observed in three cases (6 eyes), and a small amount of granular deposits were observed in three cases (6 eyes). Corneal endothelial cell counts were normal. Retinal lattice degeneration were observed in 3 cases, 6 eyes (including 3 cases of rhegmatogenous retinal detachment in 4 eyes); retinal thinning without obvious lattice degeneration in 4 eyes of 2 patients. Nystagmus in 1 patient and fundus examination showed no significant abnormalities. DNA sequencing results showed that the proband and 4 patients had missense mutation of TGFBI gene in exon 4 c.371G＞ A, the mutation site corresponding to the amino acid change encoded by TGFBI gene No. 124 Amino acids, from arginine to histidine (p.R124H). Patients with this mutation have varying degrees of clinical phenotype. Conclusions The mutation of c.701G＞ A (p.R124H) in TGFBI gene is the causative gene of GCD in this pedigree. The patients with this mutation have different clinical phenotypes.
ObjectiveTo investigate the efficiency and safety of pneumatic retinopexy for rhegmatogenous retinal detachment (RRD). MethodsA prospective case series study. From January 2020 to December 2021, 27 eyes of 27 RRD patients in Joint Shantou International Eye Center were included. Among them, there were 10 males and 17 females; the mean age was 36.0±11.8 years old. There was recurrent retinal detachment in 4 eyes. Best corrected visual acuity (BCVA) and optical coherence tomography were performed. According to whether the retina was successfully reattached after a single intravitreal injection, the patients were divided into a single operation group and a second operation group. All eyes underwent pneumatic retinopexy, the patients received intravitreal injection of 0.3-0.5 ml 100% C3F8. On the next day, laser photocoagulation was performed around the retinal breaks. The mean follow-up time was 15.0±6.0 months. Outcome measures included single operation success rate, the BCVA at the last follow up and complications. The age, gender, extent of retinal detachment, number of retinal breaks, and preoperative and postoperative BCVA of patients in the single operation group and the second operation group were compared using Mann-Whiteney test or Fisher's exact test. ResultsTwenty of the 27 eyes (74.1%, 20/27) had retinal reattachment after single operation, 7 of the 27 eyes (25.9%, 7/27) had retinal reattachment after the second operation. Among the 7 eyes, retinal detachment recurrence after operation, retinal detachment recurrence after tear opening, and retinal detachment recurrence with new tears occurred in 1, 4, and 2 eyes, respectively; retinas were all reattached after scleral buckling or vitrectomy. The BCVA was stable and improved in 14 and 13 eyes, respectively. Compared with the single operation group, the retinal detachment in the second operation group was wider and the BCVA before operation was worse, the differences were statistically significant (Z=－2.842,－2.233; P<0.05). Transient intraocular pressure elevation occurred in 5 eyes; no complications such as infectious endophthalmitis, intraocular hemorrhage and lens damage occurred. ConclusionPneumatic retinopexy is safe and effective in the treatment of RRD.