Influence of Goniotomy Size on Treatment Safety and Efficacy for Primary Open-Angle Glaucoma: A Multicenter Study.

PURPOSE: To compare the efficacy and safety of 120-, 240-, and 360-degree goniotomy (GT) with or without phacoemulsification with intraocular lens implantation (PEI) for patients with primary open-angle glaucoma (POAG). DESIGN: Multicenter, retrospective, comparative, nonrandomized interventional study. METHODS: Patients diagnosed with POAG who underwent GT with or without PEI were included, and divided into 6 groups: 1) standalone 120-degree GT (120GT); 2) standalone 240-degree GT (240GT); 3) standalone 360-degree GT (360GT); 4) PEI + 120GT; 5) PEI + 240GT; and 6) PEI + 360GT. Data on intraocular pressure (IOP), the number of ocular hypotensive medications, and complications were collected and compared. Success was defined as a postoperative IOP within the range of 6 to 18 mm Hg and a 20% reduction from baseline without further glaucoma surgery. Complete success and qualified success were defined as the above without and with ocular hypotensive medications, respectively. RESULTS: Three hundred eight eyes of 231 patients were included with a mean follow-up of 14.4 ± 8.6 months (6.0-48.0 months). There were no significant differences in the reductions in IOP and number of medications and cumulative survival probability for complete and qualified success rates among the 3 groups of standalone GT and PEI + GT. The 360GT group had the highest proportion of hyphema with or without PEI. CONCLUSIONS: 120GT, 240GT, and 360GT with or without PEI showed similar efficacy in reducing IOP and medications used in POAG. 360GT with or without PEI was more likely to cause hyphema compared with 120GT or 240GT. 120GT with or without PEI was sufficient for treating POAG with or without cataract..

Outcomes of Partial Versus Complete Goniotomy With or Without Phacoemulsification for Primary Open Angle Glaucoma: A Multicenter Study.

PRCIS: Goniotomy (GT) 120 degrees with or without phacoemulsification was sufficient to lower the intraocular pressure (IOP) and reduce hyphema for primary open angle glaucoma. PURPOSE: To compare the surgical outcomes and safety profiles of 120 degrees and 360 degrees GT with or without phacoemulsification cataract extraction and intraocular lens implantation (PEI) for primary open angle glaucoma. PATIENTS AND METHODS: This multicenter retrospective study consisted of 139 eyes and was divided into 4 groups: (1) 120 degrees GT, (2) 360 degrees GT, (3) PEI + 120 degrees GT, and (4) PEI + 360 degrees GT. IOP, number of topical hypotensive medications, and complications were recorded and evaluated at baseline and at the final visit. The complete and qualified success rate and their potential associated factors were also investigated. The effectiveness and safety profile of the surgery were compared between different subgroups. RESULTS: After a mean follow-up of 8.6 months, the IOP reduction was 13.2 ± 8.3 (38.8 ± 28.8%), 12.4 ± 8.3 (41.6 ± 18.2%), 12.8 ± 9.9 (39.4 ± 34.5%), and 13.8 ± 7.2 (46.0±17.1%) mm Hg in 120 degrees, 360 degrees, PEI + 120 degrees GT group, and PEI + 360 degrees GT, respectively. No significant difference was found in IOP, a decline of IOP from baseline, topical hypotensive medication, and complete or qualified success between either standalone 120 degrees versus 360 degrees GT, or PEI + 120 degrees versus PEI + 360 degrees GT (all P s > 0.05). The PEI + 120 degrees GT group had a lower final IOP than the 120 degrees GT group ( P = 0.0002) whereas there was no difference between PEI + 360 degrees GT and 360 degrees GT group ( P = 0.893). Both 360 degrees GT and PEI + 360 degrees GT group had a significantly higher incidence of hyphema than the 120 degrees GT and PEI + 120 degrees GT groups (all P s < 0.0001). CONCLUSIONS: GT of 120 or 360 degrees lowered IOP equally with or without cataract surgery, and hyphema was most commonly noted after complete GT. Partial GT alone or in combination with cataract surgery was an effective and safe approach to manage patients with open angle glaucoma.

Visual function assessment of Chinese cataract patients after individual aspheric intraocular lens implantation according to preoperative cornea spherical aberration.

BACKGROUND: Aspheric intraocular lens (IOLs) implantation has been widely applied in cataract surgery. However, there is no consensus on the optimal guidance for the operations in IOLs implantation. OBJECTIVE: This study evaluated the visual function of Chinese cataract patients six months after cataract surgery with two different guiding ideologies. METHODS: We evaluated 50 patients (61 eyes) with implantation of different aspheric IOLs (SN60WF IOLs, ZCB00 IOLs, PY-60AD IOLs, AO IOLs) 6 months after cataract surgery. Twenty-four patients (30 eyes) under individual implantation were ascribed to group 1 and 26 patients (31 eyes) with randomized implantation were ascribed to the control group (group 2). Postoperatively parameters included monocular best-corrected visual acuity (BCVA), contrast sensitivity (CS), total spherical aberration Z (4, 0) at 5 mm pupil size, and patient satisfaction. The quality of life after operation was assessed through the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25). RESULTS: Six months after cataract operation, the contrast sensitivity with glare of group 1 at 2.5∘ was 0.697 ± 0.027, and 0.532 ± 0.049 in group 2. Besides, there was no significant difference at any other special frequency. The mean spherical aberration Z (4, 0) at 5 mm pupil size in group 1 was 0.015 ± 0.028 um, and in group 2 was 0.043 ± 0.109 um, with a significant difference (p< 0.01). The mean scores obtained from NEI VFQ-25 were not significantly different. CONCLUSION: It is effective to implant aspheric IOLs individually according to preoperative corneal spherical aberration. Patients obtained better contrast sensitivity with glare at 2.5∘, but there was no significant difference in BCVA, contrast sensitivity at other special frequency, and subjective visual function.

Spontaneous resolution of recurrent Descemet's membrane detachment after trabeculectomy: A case report.

PURPOSE: We report a rare case of recurrent Descemet's membrane detachment (DMD) post-trabeculectomy which was resolved spontaneously without surgical intervention. OBSERVATIONS: A 66-year-old patient with a history of acute angle closure glaucoma in his right eye presented to our hospital. The intraocular pressure (IOP) of his right was 40 mm Hg, and the visual acuity was10/20. After trabeculectomy of the affected eye, a severe Descemet's membrane detachment was found by AS-OCT. Part of Descemet's membrane was lying in front of the iris and lens. Surgical repair was performed, and viscoelastics and sterile air were injected into the anterior chamber to return the detached Descemet's membrane. AS-OCT showed that the DMD was successfully resolved. However, on the 7th day of follow-up, the DMD was detached again as seen on AS-OCT images. The patient refused reoperation to repair the DMD. Six months later, the patient visited our hospital again, and, interestingly, the DMD was completely resolved spontaneously without reoperation. CONCLUSIONS AND IMPORTANCE: Descemet's membrane is the basement membrane that lies between the stroma and the endothelial layer of the cornea. Minor DMD may be resolved spontaneously within a period of time without surgery, but large DMD is difficult to recover spontaneously. We believe that this is a rare case with spontaneous recovery of extensive DMD after trabeculectomy. But, despite all this, we still remain of the view that DMD should be treated immediately once it occurs.

Ab interno trabeculotomy combined with cataract extraction in eyes with primary open-angle glaucoma.

OBJECTIVE: To investigate the efficacy and safety of ab interno trabeculotomy using the VISCO360® Viscosurgical System (Sight Sciences, Inc., Menlo Park, CA, USA) combined with cataract extraction in the treatment of primary open-angle glaucoma (POAG). METHODS: Patients with POAG who underwent ab interno trabeculotomy combined with cataract extraction were retrospectively analyzed. Best-corrected visual acuity (BCVA), intraocular pressure (IOP), the number of antiglaucomatous medications, and complications were recorded preoperatively and 1 week, 1 month, 3 months, 6 months, 1 year, and 2 years postoperatively. RESULTS: Thirty-four patients (40 eyes) with POAG were included in this study, including 20 men (22 eyes) and 14 women (18 eyes). Compared with the preoperative IOP, the postoperative IOP was significantly lower at each time point. The greatest reduction in IOP was 60.7% at 1 month after surgery. The BCVA was also significantly improved at each postoperative time point. The number of antiglaucomatous medications used by the patients was significantly lower postoperatively than preoperatively. CONCLUSION: Ab interno trabeculotomy combined with cataract extraction is effective and safe for treatment of POAG.

Morphological and cytological changes of meibomian glands in patients with type 2 diabetes mellitus.

AIM: To observe the changes of microcellular structure of meibomian glands (MGs) in type 2 diabetes mellitus (DM), and to explore its correlation with the duration of diabetes. METHODS: The study assessed 132 eyes of 132 patients with type 2 diabetes mellitus (DM group) and 100 eyes of 100 non-diabetic participants (NDM group). All patients underwent the examination of the Keratograph 5M system to obtain the meibography which were used to evaluate the structure dropout of the MGs. And then laser scanning confocal microscopy (LSCM) was performed for observing the acinar cells and ducts of the MGs to obtain the following parameters: the MG acinar unit density (MGAUD), MG acinar longest diameter (MGALD) and MG acinar shortest diameter (MGASD). The examination results of the right eye were selected for analysis. RESULTS: Compared with that in NDM group, the meiboscore was significantly higher (Z=-4.057, P<0.001), and there were more MGs dropout in DM group. With the prolongation of the course of diabetes, the absence of MGs aggravated and the MGs dropout score increased (r=0.596; P<0.001). LSCM showed that there were various cytological alterations in acinar cells of MGs with the progress of diabetes duration, such as expansion, atrophy or fibrosis of MG acinar units, decreased density of MG acinar units, deposition of lipid substances, infiltration of inflammatory cells, proliferation of fibrous tissues, etc. And the opening of the glandular duct changed from smooth at the beginning to narrow, blocked, fibrotic and so on. Compared with that in NDM group, the MGAUD in DM group was significantly lower (Z=-9.713; P<0.001), the MGALD and MGASD were significantly larger (Z=-9.751, -6.416; P<0.001). With the duration of diabetes, the MGAUD reduced, the MGASD increased (r=0.860, 0.364, P<0.001); but the MGALD had no correlation with diabetic duration (r=0.133, P=0.151). CONCLUSION: With the progress of diabetes, the meibomian glandular acinar cells of diabetic patients show various manifestations. Those changes may result in the dysfuction of the MGs, tear film instability and dry eye symptoms in patients with type 2 DM.

Predictive value of spectral-domain optical coherence tomography features in assessment of visual prognosis in eyes with acute welding arc maculopathy.

OBJECTIVE: To observe spectral-domain optical coherence tomography (SD-OCT) features and to determine whether baseline OCT features can be used as predictors of visual acuity outcome in eyes with acute welding arc maculopathy. METHODS: This retrospective study enrolled twenty-two eyes of eleven subjects with acute welding arc maculopathy. All subjects were evaluated by SD-OCT at baseline and final visit. The involved parameters included best-corrected visual acuity (BCVA), central macular thickness (CMT), the length of ellipsoid zone (EZ) defects, the greatest linear dimension (GLD) of outer retinal lesions, EZ reflectivity and relative EZ reflectivity (defined as the ratio of EZ reflectivity to retinal pigment epithelium reflectivity on OCT). RESULTS: Acute welding arc maculopathy was presented as abnormal hyperreflectivity, hyporeflectivity and defects of outer retinal layer in fovea on OCT. Compared with baseline, BCVA improved significantly accompanied by decreased GLD of outer retinal lesions and the length of EZ defects at final visit (P = 0.0004, P < 0.0001 and P < 0.0001, respectively). No significant changes were shown on CMT (P = 0.248). In multivariate regression analysis, final BCVA was associated with baseline BCVA and the length of EZ defects (P = 0.012 and P = 0.045, respectively). However, EZ reflectivity and relative EZ reflectivity were not associated with final BCVA (P > 0.05). CONCLUSION: In conclusion, SD-OCT images clearly reveal morphological changes in outer retinal layer in acute welding arc maculopathy. The baseline BCVA and length of EZ defects are the strongest predictors of final BCVA.

Anti-VEGF Monotherapy Versus Photodynamic Therapy and Anti-VEGF Combination Treatment for Neovascular Age-Related Macular Degeneration: A Meta-Analysis.

Purpose: The purpose of this study was to compare the efficacy and safety of anti-VEGF monotherapy with verteporfin photodynamic therapy (PDT) and anti-VEGF combination treatment in neovascular AMD. Methods: This study used a meta-analysis of randomized controlled trials. Results: We included a total of 16 studies that included 587 patients in the monotherapy group and 673 in the combination treatment group. There was no statistical difference between best corrected visual acuity (BCVA) and central retinal thickness (CRT) at end of the study and the proportions of patients who gained ≥15 BCVA letters between the two treatment groups. Nevertheless, combination therapy required fewer anti-VEGF injections than monotherapy. Subgroup analyses showed that CRT at end of the study was thinner in the standard-fluence (SF) PDT combination therapy group than in the monotherapy group (weighted mean difference [WMD]: 17.256; 95% confidence interval [CI]: 5.423∼29.089; P = 0.004). The reduced-fluence (RF) PDT combination therapy group required fewer anti-VEGF injections than the monotherapy group (WMD: 3.217; 95% CI: 2.798∼3.636; P < 0.001), while the number of anti-VEGF treatments between the SF PDT combination therapy and monotherapy groups was not statistically different (WMD: 0.23; 95% CI: -0.016∼0.475; P = 0.067). In the combination therapy group, there was no difference between the PDT + anti-VEGF versus anti-VEGF retreatment regimens. Conclusions: This study indicates that verteporfin PDT and anti-VEGF combination therapy is effective for achieving BCVA gain and CRT reduction comparable with that of anti-VEGF monotherapy. Combination therapy with RF PDT can potentially decrease the number of anti-VEGF injections needed.

Changes of meibomian glands in patients with type 2 diabetes mellitus.

AIM: To investigate the morphological changes of meibomian glands in patients with type 2 diabetes mellitus (DM). METHODS: Of 118 eyes (118 patients) with type 2 DM (DM group) and 100 eyes of 100 control subjects (control group) were enrolled. After completing an ocular surface disease index (OSDI) questionnaire, the non-invasive tear film break-up time (NI-BUT) and the structure of the meibomian glands (MGs, meibography) were assessed by the Keratograph 5M system. Partial or complete loss of MG was scored for each eyelid from grade 0 (no loss) to grade 3 (lost area was >2/3 of the total MG area), which were also examined by laser scanning confocal microscopy (LSCM). The primary outcomes were meibomian gland acinar unit density (MGAUD), meibomian gland acinar longest diameter (MGALD) and meibomian gland acinar shortest diameter (MGASD). RESULTS: Compared with control group, the OSDI was significantly higher in DM group (Z=-5.916; P<0.001), while the NI-BUT was significantly lower (Z=-7.765; P<0.001). Keratograph showed that there were more MGs dropout in DM group than that in control group. The meiboscore was significantly higher in DM group compared with control group (Z=-3.937; P<0.001). LSCM revealed that there were cytological alterations of MGs in DM group compared with control group, which included enlargement of MG acinar units and decreased in density of MG acinar units. Specifically, there were lower MGAUD, larger MGALD and MGASD in DM group than control group (Z=-10.120, -9.4442, -7.771; P<0.001). CONCLUSION: Compared with the normal control participants, the patients with type 2 DM had more unstable tear films and severe symptoms of dry eye. Using Keratograph 5M system and LSCM, we found that the patients with type 2 DM had more significant morphological and cytological changes and dysfunction in MGs.

Influences of anterior capsule polishing on effective lens position after cataract surgery: a randomized controlled trial.

To evaluate the effects of anterior capsule polishing on effective lens position (ELP) and the actual axial movements of IOLs by measuring the anterior chamber depth (ACD). This prospective randomized double-blind controlled clinical trial included patients who underwent bilateral uneventful cataract surgeries and were implanted the same IOLs (SN60WF). Extensive polishing was performed randomly in the anterior capsule of one eye with Whitman Shepherd double-ended capsule polisher, and the opposite unpolished capsule was used as the control. The ACD was measured 1 day, 1 week, 1 month, 3 months and 6 months after surgery with the anterior segment optical coherence tomography (AS-OCT). The actual axial movement of IOL was defined as the root mean square (RMS) of the change in ELP at each visit. A total of 40 eyes of 20 patients were included, and 10 patients (50%) were men. All the patients underwent uneventful surgeries without intraoperative or postoperative complications, and returned on time for measurements. The mean age of them was 70.5±7.6 years (range 56 to 79 years). No significant differences were observed between the mean ELP of the control group and the polished group (P>0.05). Nevertheless, the ELPRMS of the polished group was significantly smaller than that of the control group (P=0.005). Polishing anterior capsule intraoperatively improved the axial position stability of the IOL in the long term.

CX3CR1 polymorphisms and the risk of age-related macular degeneration.

BACKGROUND: Age-related macular degeneration (AMD), a most common eye disease, can lead to irreversible visual impairment. Age, genetic and environmental factors have been implicated in AMD. Chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene polymorphisms could influence the susceptibility of AMD. METHODS: We tested the association between AMD and single nocleotide polymorphisms (SNPs) of CX3CR1 gene (rs3732378 and rs3732379) in 102 cases and 115 controls from China. Genotypes were determined by MassArray genotyping assay method. Association between CX3CR1 gene polymorphisms and AMD were examined by χ(2) test and logistic regression. RESULTS: Genotype distribution of CX3CR1 gene polymorphisms were in accordance with HWE examination. No obvious differences were observed in the genotypes of rs3732378 polymorphism between case and control groups (P>0.05), but A allele of it could increase the risk of AMD (P=0.025, OR=2.391, 95% CI=1.092-5.237). Both TT genotype and T allele of rs3732379 were significantly associated with the susceptibility of AMD (P=8.663, OR=8.663, 95% CI=1.044-71.874; P=0.021, OR=2.076, 95% CI=1.104-3.903). Age, gender and smoking status were used as common confounders to adjust the association between CX3CR1 gene polymorphism and AMD risk. Then we found that rs3732378 had no obvious association with AMD susceptibility. TT genotype of rs3732379 related to the occurrence of AMD, but the association was not significant (P=0.050, OR=8.274, 95% CI=1.002-69.963). T allele of rs3732379 might increase the susceptibility of AMD (P=0.029, OR=2.033, 95% CI=1.077-3.838). CONCLUSION: T allele of rs3732379 might have a positive association with the susceptibility of AMD.

MiR-144 Inhibits Uveal Melanoma Cell Proliferation and Invasion by Regulating c-Met Expression.

MicroRNAs (miRNAs) are a group endogenous small non-coding RNAs that inhibit protein translation through binding to specific target mRNAs. Recent studies have demonstrated that miRNAs are implicated in the development of cancer. However, the role of miR-144 in uveal melanoma metastasis remains largely unknown. MiR-144 was downregulated in both uveal melanoma cells and tissues. Transfection of miR-144 mimic into uveal melanoma cells led to a decrease in cell growth and invasion. After identification of two putative miR-144 binding sites within the 3' UTR of the human c-Met mRNA, miR-144 was proved to inhibit the luciferase activity inMUM-2B cells with a luciferase reporter construct containing the binding sites. In addition, the expression of c-Met protein was inhibited by miR-144. Furthermore, c-Met-mediated cell proliferation and invasion were inhibited by restoration of miR-144 in uveal melanoma cells. In conclusion, miR-144 acts as a tumor suppressor in uveal melanoma, through inhibiting cell proliferation and migration. miR-144 might serve as a potential therapeutic target in uveal melanoma patients.

Clinical outcomes of non-torque pattern double running suture technique for optical penetrating keratoplasty.

OBJECTIVE: To validate non-torque pattern double running suture technique for optical penetrating keratoplasty compared with traditional suture method. METHODS: 56 patients (56 eyes) undergoing optical penetrating keratoplasty were divided into two groups. The experimental group (28 cases) underwent non-torque pattern double running suture technique, and the control group (28 cases) underwent interrupted suture. All participants were followed up at 2 weeks, 2 months, 6 months, and 1 year postoperatively. The best corrected visual acuity (BCVA), corneal curvature change and astigmatism change were observed and compared between the two groups, and corneal topographer was used to measure refractive change. RESULTS: BCVA in experimental group was significantly improved (P<0.05); the corneal topographer showed that astigmatism in experimental group was significantly lower than that in control group at the early postoperative phase (P<0.001). Six months later postoperatively, astigmatism gap between the two groups was narrowed, but the differences were still statistically significant (P<0.001). Twelve months later, astigmatism in the experimental group was similar to six months ago, but astigmatism in control group reduced significantly. No significant difference in astigmatism was observed between two groups (P>0.05). CONCLUSION: Non-torque pattern double running suture technique for optical penetrating keratoplasty can achieve the BCVA at the very early phase, with stable postoperative refractive status. This novel suture method is accurate and safe with elegant appearance.

General anesthesia versus local anesthesia for penetrating keratoplasty: a prospective study.

AIM: To examine which anesthesia general or local is more effective for penetrating keratoplasty (PKP). METHODS: Patients with indications for PKP (n=141) were enrolled in a prospective study and randomly divided into general anesthesia group (group A, 70 eyes) and local anesthesia group (group B, 71 eyes). Patients received optical PKP (group A1, 30 eyes; group B1, 30 eyes) or therapeutic PKP (group A2, 40 eyes; group B2, 41 eyes). Measurement of anterior chamber treatment time (T) for PKP patients and the ratio (R) of the area of the pupils to that of recipient graft region. T and R values, as well as perioperative and postoperative complications, were compared between groups A and B using t-test or χ (2) test. RESULTS: Patients were followed for 2wk after PKP. T was (13.45±8.64)min for group A and (7.36±5.24)min for group B, a statistically significant difference (P<0.001). The R value for group A was stable during the operation, while for PKP patients in group B the value initially increased then gradually decreased to normal after suturing. In group B, extrusion of intraocular contents occurred in 5 eyes, and iridal prolapse occured in 11 cases; no perioperative complications occurred in group A. Relapse rate for fungal keratitis was 13.04% in group B and 0% in group A. CONCLUSION: Under general anesthesia, pupils remaine stable during PKP and perioperative complications are averted. General anesthesia gives more time to treat pathological changes in the anterior chamber and treatment success rate is higher.

Vascular endothelial growth factor gene polymorphisms and risk of neovascular age-related macular degeneration in a Chinese cohort.

AIMS: To evaluate the association between vascular endothelial growth factor (VEGF) gene polymorphism and the risk of neovascular age-related macular degeneration (AMD) in a case-control study in a Chinese cohort. METHODS: We genotyped 4 common single-nucleotide polymorphisms (SNPs), namely -460T/C (rs833061), +405C/G (rs2010963), +674C/T (rs1413711) and +936C/T (rs3025039), simultaneously detected 7 tag SNPs (tSNPs) in the VEGF gene, in 159 neovascular AMD patients and 140 age- and sex-matched control subjects. Genetic analyses for an additive, dominant and recessive model were performed on all available genotype data. All the possible haplotypes of these 11 SNPs were detected. RESULTS: No evident association was found in the allele frequencies of any individual SNP between patients and controls; the combined p values in each genotype group were greater than 0.05. Haplotype analyses of these SNPs did not provide any evidence for an association with the risk of neovascular AMD in this Chinese cohort (p > 0.05). CONCLUSIONS: Detection of 4 common SNPs and 7 tSNPs in the VEGF gene did not find any statistically significant association with neovascular AMD in the Chinese cohort. Further studies of comprehensive VEGF gene variations are required to characterize the susceptibility of the VEGF gene in the pathogenesis of AMD.

Pigment epithelium-derived factor gene polymorphisms in exudative age-related degeneration in a chinese cohort.

PURPOSE: To investigate polymorphisms in the pigment epithelium-derived factor (PEDF) gene in a Chinese cohort with exudative age-related macular degeneration (AMD). METHODS: Two common single nucleotide polymorphisms (SNPs), Met72Thr (rs1136287) and -5736T>C (rs12150053), were genotyped, and four tagSNPs (tSNPs) were detected statistically in the PEDF gene of 168 exudative AMD patients and 230 age- and sex-matched control participants. Genetic analyses for additive, dominant, and recessive models were performed on all the available genotype data. All the possible haplotypes of these six SNPs were detected. RESULTS: No association was found between the patients and the control participants in the allele frequencies for any individual SNP. There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant. Likewise, haplotype analyses did not provide any evidence for an association between SNPs in the PEDF gene and the risk of exudative AMD in this Chinese cohort (p > 0.05). CONCLUSIONS: Detection of SNPs in the PEDF gene was not found to be significantly associated with exudative AMD in the Chinese cohort. Further studies of comprehensive PEDF gene variations are required to characterize the susceptibility of PEDF gene in the pathogenesis of AMD.

Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort.

To evaluate the association between complement factor H (CFH) gene polymorphism and the risk of exudative age-related macular degeneration (AMD) in a case-control study in a Chinese cohort. One hundred and thirty-six exudative AMD patients and 140 age- and sex-matched control subjects were recruited. We genotyped 3 common single nucleotide polymorphisms (SNPs), namely, -257C>T (rs3753394), Y402H (rs1061170) and IVS15 (rs1329428), genetic analyses were performed on all available genotype data. All the possible haplotypes of these 3 SNPs were detected. Polymerase chain reaction (PCR) and allele-specific restriction endonuclease digestion were performed, some PCR products of these 3 SNPs were sequenced. The risk alleles (T, C or G) of the 3 SNPs conferred 1.72-fold, 3.14-fold, and 1.79-fold of increased likelihood of the disease, respectively (P<0.05). The heterozygous genotype in rs1061170 (TC) revealed significant association, meanwhile rs3753394 and rs1329428 had a slight association with the disease, respectively. Significant differences were shown in the risk alleles in the 3 SNPs among different Chinese cohort. Low linkage disequilibrium was found among the 3 SNPs. The haplotypes TCG and CTG revealed as risk factors, whereas the protective haplotype CTA was over-represented in controls. We found significant association between risk alleles (T, C or G) of the 3 SNPs and the disease. The genetic divergence across multiple populations within Chinese existed. Risk haplotypes and protective haplotype were found in this study.

Analyses of single nucleotide polymorphisms and haplotype linkage of LOC387715 and the HTRA1 gene in exudative age-related macular degeneration in a Chinese cohort.

PURPOSE: To investigate the effect of single nucleotide polymorphisms (SNPs) and haplotypes in the genes encoding age-related maculopathy susceptibility 2 (LOC387715/ARMS2) and high-temperature requirement A-1 (HTRA1) in a case-control study in a Chinese cohort of individuals with exudative age-related macular degeneration (AMD). METHODS: We genotyped 2 SNPs, namely, LOC387715 rs10490924 and HTRA1 rs11200638, in 159 exudative AMD patients and 140 age- and sex-matched control subjects. All the four possible haplotypes of these two SNPs were detected. Comparisons of the risk genotypes and risk or protective haplotypes across multiple populations were performed. RESULTS: Allelic or genotype association tests yielded significant results at P < 0.001. We observed that homozygous risk genotypes (TT in rs10490924 and AA in rs11200638) were more strongly associated with AMD than the heterozygous genotypes (GT in rs10490924 and geographic atrophy in rs11200638) for both SNPs. Comparisons of the odds ratios for genotypes revealed that there is ethnic disparity in AMD prevalence, even within the Chinese population. The haplotype TA, comprising both the SNPs, was identified as an at-risk factor and was significantly associated with AMD, whereas the protective haplotype GG was significantly overrepresented in the controls (P < 0.001). The frequency of the TA haplotype was relatively higher in the Chinese population than in the white population in both groups, whereas the frequency of the GG haplotype was relatively lower in the Chinese controls than in the white and Japanese controls. CONCLUSION: Both SNPs are significantly associated with exudative AMD in the Chinese cohort and seem to contribute equally to the disease status. A higher frequency of homozygous risk genotypes and risk haplotype and a lower frequency of protective haplotype in the Chinese may be the cause of higher prevalence of exudative AMD in the Chinese than in the whites.