The risk factors of the progression of rhegmatogenous retinal detachment on patients with the fourteen-day quarantine in the early period of COVID-19 outbreak.

BACKGROUNDS: The COVID-19 Pandemic has a great impact on hospitals and patients. The 14-day quarantine caused surgery of rhegmatogenous retinal detachment (RRD) postponed. We aimed to explore the risk factors of RRD progression in a group of patients whose surgery was postponed during the top-level emergency response of COVID-19. METHODS: A retrospective case series. Medical records of all consecutive patients with a diagnosis of RRD who underwent a surgical treatment at Beijing Tongren Hospital's retina service from February 16, 2020, to April 30, 2020 have been reviewed retrospectively. Medical history, symptoms, and clinical signs of progression of RRD were recorded. RRD progression was defined as the presence of either choroidal detachment or proliferative vitreoretinopathy (PVR) progression during the quarantine period. Risk factors were analyzed using the Cox proportional hazards model, survival analysis, and logistic regression. RESULTS: Seventy-nine eyes of 79 patients met the inclusion criteria and were included in the study. The median time from the patients' presentation at the clinic to admission for surgery was 14 days (3-61 days). There were 70 cases (88.6%) who did not present to the hospital within 1 week of the onset of visual symptoms. There were 69 (87.3%) macular-off cases at the presentation and 27 (34.2%) cases combined with choroidal detachment. There were 49 (62.0%) cases with PVR B, 22 (27.8%) cases with PVR C, 4 (5.1%) cases with PVR D, and 4 (5.1%) cases with anterior PVR. After the 14-day quarantine, 21 (26.6%) cases showed RRD progression, and 9 cases showed RRD regression at the time of surgery. Neither the time of onset of the visual symptom (p = 0.46) nor the time between presentation and admission (p = 0.31) was significantly different between the patients with RRD progression and patients without RRD progression. The combination of choroidal detachment (3.07, 1.68-5.60, p<0.001) and retinal breaks located posterior to the equator (3.79, 1.21-11.80, p=0.02) were factors related to the progression of RRD. CONCLUSIONS: In our study during the COVID-19 outbreak, the RRD progression risk factors included a combination of choroidal detachment and retinal breaks posterior to the equator. Ophthalmologists should schedule the surgeries for RRD patients with these signs as soon as possible.

SURGICAL OUTCOMES OF 25-GAUGE PARS PLANA VITRECTOMY USING AIR AS AN INTERNAL TAMPONADE FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT.

PURPOSE: To report surgical outcomes of 25-gauge pars plana vitrectomy using air as an internal tamponade for patients with primary rhegmatogenous retinal detachment (RRD). METHODS: A retrospective clinical study of 59 eyes of 59 consecutive patients presented with primary RRD at the Beijing Tongren Eye Center in China. From August 2016 to May 2018, medical records of the patients who underwent 25-gauge pars plana vitrectomy with air tamponade for RRD were reviewed. The main outcome measures were primary and final anatomical success (retinal re-attachment) rates, and postoperative complications. RESULTS: Of the 59 patients, aged 54.47 ± 11.81 years, 31 (52.5%) were men. Vitrectomy was performed 3 to 40 (averaged 16.98 ± 10.17) days after the onset of symptoms, and the mean follow-up period was 12.90 ± 5.92 months (ranging 6.07-26.10 months). Forty-two eyes (71.2%) had RRD with retinal breaks in the superior half of the retina, and the mean number of retinal breaks was 1.75 ± 0.94. Three eyes (5.1%) had RRD with giant retinal tears. Of the 59 eyes, 35 (59.3%) had RRD with inferior quadrants involved. Proliferative vitreoretinopathy (PVR) gradings were C1 in 2 (3.4%) eyes and B or below in 57 (96.6%) eyes. The primary and final anatomical success rates were 94.9% (56/59) and 98.3% (58/59), respectively. Of the three eyes which developed re-detachment of the retina, one eye had postoperative progression of PVR and two eyes were RRD associated with macular hole in high myopia. Postoperative complications included 5 eyes (8.5%) with serous choroidal detachment within 3 days after surgery and 4 eyes (6.8%) with macular epiretinal membrane formation 1 to 8 months after surgery. Secondary cataract surgery was performed in 13 of the 53 phakic eyes (24.5%) during follow-up. CONCLUSION: Small-gauge pars plana vitrectomy with air tamponade may be effective in treating selected cases of relatively simple primary RRD. Additional studies are needed to verify the efficacy of this surgical approach for more complicated cases such as those with giant retinal tears.

Subfoveal Choroidal and Macular Thickness Changes after Phacoemulsification Using Enhanced Depth Imaging Optical Coherence Tomography.

PURPOSE: To assess changes in the thickness of the subfoveal retina and choroid after phacoemulsification using enhanced depth imaging optical coherence tomography (EDI-OCT). METHODS: A prospective study was conducted on 100 patients. The subfoveal choroidal thickness (SFCT) was measured at 7 points and the retinal thickness was measured at 5 points (before surgery, and 1 day, 1 week, 1 month, and 3 months after surgery). RESULTS: The foveal choroidal thickness showed a thickening trend (but p > 0.05). Compared to the change from baseline to day 1, the changes from baseline were significantly different at nasal 3 mm and 6 mm at all other time points (all p < 0.05). Choroidal thickness changes at temporal 6 mm correlated negatively with intraocular pressure (IOP) at 1 week and 1 month; changes at nasal 3 mm correlated negatively with IOP at 1 week and 1 month (all p < 0.05); changes at nasal 3 mm, temporal 3 mm, and temporal 6 mm correlated with average ultrasonic energy. Choroidal thickness changes correlated with ultrasound (US) time at day 1. CONCLUSIONS: Uncomplicated phacoemulsification led to changes in choroidal thickness. IOP and choroidal thickness changes were negatively correlated. The foveal retinal thickness was correlated with age. SFCT was correlated with sex, axial length, IOP, and US time.

Inhibition of cell proliferation and migration after HTRA1 knockdown in retinal pigment epithelial cells.

PURPOSE: The purpose of this study was to investigate the role of HtrA serine peptidase 1 (HTRA1) in the proliferation and migration of cells of the human retinal pigment epithelial cell line ARPE-19, and the possible mechanisms involved. METHODS: ARPE-19 cells were transduced by a recombinant lentiviral vector carrying HTRA1-shRNA to knockdown HTRA1 expression. Subsequent HTRA1 gene and HTRA1 protein levels in these cells and control cells were detected by quantitative real-time PCR and Western blot, respectively. Changes in cell proliferation and migration associated with the inhibition of HTRA1 expression were assessed, as well as changes in the mRNA levels of transforming growth factor beta 1 (TGFB1), bone morphogenetic protein 4 (BMP4), and bone morphogenetic protein 2 (BMP2). RESULTS: The recombinant lentivirus carrying HTRA1-shRNA was successfully generated, as evidenced by reduced levels of HTRA1 mRNA and HTRA1 protein in ARPE-19 cells. The knockdown of HTRA1 in ARPE-19 cells was associated with reduced cellular proliferation and migration, and increased mRNA levels of TGF-ß1, BMP4, and BMP2. CONCLUSIONS: Silence of the HTRA1 gene was associated with significantly higher levels of TGF-ß1, BMP4, and BMP2 mRNA and reduction in the proliferation and migration of ARPE-19 cells.

Use of cataract surgery in urban Beijing: a post screening follow-up of the elderly with visual impairment due to age-related cataract.

OBJECTIVE: To understand the perception for the use of cataract surgical services in a population of acceptors and non-acceptors of cataract surgery in urban Beijing. METHODS: From a community-based screening program a total of 158 patients with presenting visual acuity of less than 6/18 on either eye due to age-related cataract were informed about the possibility of surgical treatment. These patients were interviewed and re-examined 36 to 46 months after initial screening. The main reasons for not accepting surgery were obtained using a questionnaire. Vision function and vision-related quality of life scores were assessed in those who received and did not receive surgery. RESULTS: At the follow-up examination 116 of the 158 patients were available and 36 (31.0%) had undergone cataract surgery. Cases who chose surgery had higher education level than those who did not seek surgery (OR=2.64, 95% CI: 1.08-6.63, P=0.02). There were no significant differences in vision function (P=0.11) or quality of life scores (P=0.16) between the surgery group and the non-surgery group. Main reasons for not having surgery included no perceived need (50.0%), feeling of being "too old" (19.2%), and worry about the quality of surgery (9.6%). Cost was cited by 1 (1.9%) subject as the main reason for not seeking surgery. CONCLUSIONS: The data suggest that in China's capital urban center for patients with moderate visual impairment there is a relative low acceptance rate of cataract surgery, mainly due to people's perception of marginal benefits of surgery. Cost is not a determining factor as barrier to undergo surgery and patients with poorer education are less likely to undertake surgery.

[Evaluation on the noninvasive measurement of macular pigment optical density by a novel technique].

OBJECTIVE: To evaluate the measurement of macular pigment optical density (MPOD) by a novel instrument MPS1000 as compared to that measured by the traditional heterochromatic flicker photometer (HFP). METHODS: Method-comparative study. MPOD at 0.5° eccentricity was measured simultaneously by the two different instruments in 111 eyes of the 59 healthy subjects. Test-retest variability was evaluated for each instrument over a 1-week period in 8 subjects. RESULT: The mean MPOD levels measured by the MPS1000 and HFP were 0.40±0.18 and 0.47±0.15, respectively, which were statistically significantly different by the paired t-test (t=3.95, P<0.001). A positive linear correlation was observed for MPOD at 0.5° eccentricity between the two different instruments (r=0.4, P<0.001). The 95% limit of agreement was 0.07±0.35 as shown by Bland-Altman analysis. Intersessional repeatability, expressed as a coefficient of repeatability, was 0.26 for HFP and 0.18 for MPS1000. CONCLUSION: MPOD levels measured by MPS1000 were significantly higher as compared to that measured by the traditional HFP, suggesting that it is inappropriate to directly compare the MPOD levels measured by these two methodologies.

[The association of variable number of tandem repeats polymorphism in the endothelial nitric oxide synthase gene and diabetic retinopathy].

OBJECTIVE: To investigate the association between the variable number of tandem repeats (VNTR) polymorphism 4a/b in the endothelial nitric oxide synthase (eNOS) gene and diabetic retinopathy (DR) in patients with type 2 diabetes mellitus. METHODS: cross-sectional study. A total of 278 type 2 diabetes patients were recruited, of whom 130 had DR, and 148 had diabetes without retinopathy (DWR). Of the 130 patients with DR, 34 had proliferative DR (PDR) and 96 had non-proliferative DR (NPDR). A number of 223 volunteers without diabetes from the same area were recruited as the control group. PCR and agarose gel electrophoresis methods were adopted to determine the 4a/b polymorphism genotypes of the eNOS gene. Statistical analysis was performed using the R statistical analysis package. Genotype distribution was compared using the χ(2) test. Numerical data were examined by Student t test. Genotypes and allele frequencies between cases and controls were compared using the χ(2) test or Fisher's exact test. Odd ratios (OR) and 95% confidence intervals (CI) were calculated according to the Woolf's equation. RESULTS: The frequencies of minor alleles (a) were 10.8% and 11.5% in the DR and DWR group, respectively. There were no statistical differences between the two groups (χ(2) = 0.07, P = 0.789). Also there were no statistical differences (χ(2) = 0.88; P = 0.643) in the distributions of the genotypes between DR group (bb 78.5%, ab 21.5%, aa 0.0%) and DWR group (bb 77.7%, ab 21.6%, aa 0.7%). Statistical differences were found in the frequencies of alleles, and the distributions of genotypes between diabetes group and the control group (χ(2) = 8.75, 10.39, P = 0.003, 0.006). However, after adjustment for age, blood pressure, cholesterol concentration, blood-fat and so on, it became insignificant (χ(2) = 0.97, 1.25, P = 3.224, 0.812). In the multiple regressions model including clinic factors such as the age of onset of diabetes, urinary albumin, insulin using, creatinine, glycated hemoglobin and fast glucose, no evidence showed that eNOS gene VNTR 4a/b was associated with diabetic retinopathy (OR = 0.37, 95% CI: 0.15-0.95). CONCLUSION: There was no significant association between eNOS gene VNTR 4a/b polymorphism and diabetic retinopathy (DR) in patients with type 2 diabetes mellitus.

Candidate gene association study for diabetic retinopathy in Chinese patients with type 2 diabetes.

PURPOSE: To investigate whether variants in a set of eight candidate genes are associated with diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: Case-control study. Patients with T2DM were recruited from the Desheng community in urban Beijing and assigned into a DR group or diabetic without retinopathy (DWR) group, based on the duration of diabetes and grading of fundus images. Twenty-six single-nucleotide polymorphisms (SNPs) within eight candidate genes, including PPARγ, vascular endothelial growth factor (VEGF) and its receptor kinase insert domain receptor (KDR), erythropoietin, aldose reductase, protein kinase C-ß, angiotensin-converting enzyme, and intercellular adhesion molecule 1, were analyzed using the MassARRAY genotyping system. RESULTS: A total of 500 patients with T2DM (216 with DR and 284 with DWR) were enrolled in the study. Significant associations of DR were noted with genotypes of four SNPs-rs699947 (p<0.001), rs833061 (p = 0.001), rs13207351 (p<0.001), and rs2146323 (p=0.006)--in the VEGF gene and one variant, rs2071559, in the KDR gene (p=0.034). After adjustment for covariates, significant association of DR remained with the homozygous genotype of the minor allele for the SNPs rs699947 (odds ratio [OR] = 3.54, 95% confidence interval [CI]: 1.12-11.19), rs833061 (OR = 3.72, 95% CI: 1.17-11.85), rs13207351 (OR = 3.76, 95% CI: 1.21-11.71), and rs2146323 (OR = 2.8, 95% CI: 1.46-5.37) in the VEGF gene as well as the SNP rs2071559 (OR = 1.62, 95% CI: 1.08-2.41) in the KDR gene. However, only rs699947 and rs13207351 in the VEGF gene remained statistically significant after Bonferroni correction. No associations were found in other genes tested. CONCLUSIONS: These data expanded previous observations on the association of DR with variants in the VEGF gene in Chinese patients with T2DM. Moreover, a possible association between DR and KDR polymorphisms is suggested.

Association of C(-106)T polymorphism in aldose reductase gene with diabetic retinopathy in Chinese patients with type 2 diabetes mellitus.

OBJECTIVE: To identify the possible association between C(-106)T polymorphism of the aldose reductase (ALR) gene and diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: From November 2009 to September 2010, patients with T2DM were recruited and assigned to DR group or diabetic without retinopathy (DWR) group according to the duration of diabetes and the grading of 7-field fundus color photographs of both eyes. Genotypes of the C(-106)T polymorphism (rs759853) in ALR gene were analyzed using the MassARRAY genotyping system and an association study was performed. RESULTS: A total of 268 T2DM patients (129 in the DR group and 139 in the DWR group) were included in this study. No statistically significant differences were observed between the 2 groups in the age of diabetes onset (P=0.10) and gender (P=0.78). The success rate of genotyping for the study subjects was 99.6% (267/268), with one case of failure in the DR group. The frequencies of the T allele in the C(-106)T polymorphism were 16.0% (41/256) in the DR group and 19.4% (54/278) in the DWR group (P=0.36). There was no significant difference in the C(-106)T genotypes between the 2 groups (P=0.40). Compared with the wild-type genotype, odds ratio (OR) for the risk of DR was 0.7 (95% CI, 0.38-1.3) for the heterozygous CT genotype and 0.76 (95% CI, 0.18-3.25) for the homozygous TT genotype. The risk of DR was positively associated with microalbuminuria (OR=4.61; 95% CI, 2.34-9.05) and insulin therapy (OR=3.43; 95% CI, 1.94-6.09). CONCLUSIONS: Microalbuminuria and insulin therapy are associated with the risk of DR in Chinese patients with T2DM. C(-106)T polymorphism of the ALR gene may not be significantly associated with DR in Chinese patients with T2DM.

[A survey of vision-related quality of life in patients with exudative age-related macular degeneration].

OBJECTIVE: To evaluate the vision-related quality of life in patients with exudative age-related macular degeneration (AMD). METHODS: Retrospective case-series study.One hundred and twenty-two patients with exudative AMD who were treated in Beijing Tongren Eye Center from July 2007 to July 2008 were invited to participate in this study.Vision-related quality of life was evaluated by the 25-item National Eye Institute Visual Functioning Questionnaire.Statistical analysis was performed using t test for data which were normal distribution and using Wilcoxon rank sum test for data which were abnormal distribution. RESULTS: Eighty-seven cases were fully completed and included in the final analysis within the 122 questionnaires. The total score of the questionnaire was 57.2 ± 18.4, excluded driving item. The lowest scoring item was near activities with mean score of 30.8 ± 22.3. There was statistically significant difference in mental health between male (52.9 ± 26.3) and female (40.8 ± 26.0) (w = 1 175, P < 0.05). Except for the general health and ocular pain, patients with binocular involvement showed statistically significant lower scores than those with monocular involvement in all other subscales (P < 0.05). The two age groups (patients <65 vs. ≥ 65 years old) in binocular involvement group showed statistically significant difference only in the subscale of social activities (56.6 ± 22.2 vs.42.3 ± 30.2) (w = 97, P = 0.013). CONCLUSIONS: This study suggests that exudative AMD damaged patients'near activities seriously.Female patients tends to have lower scores than male in mental health. The score of patients with binocular involvement is lower than that of patients with monocular involvement. Age has significant effects on the social activities of those patients with binocular involvement.

[Association of single nucleotide polymorphism in complement factor I gene with age-related macular degeneration].

OBJECTIVE: To investigate the association of three single nucleotide polymorphism (SNP) in the upstream of the complement factor I (CFI) gene with age-related macular degeneration (AMD) in a Chinese population. METHODS: Case-control study. Patients with early or late stages of AMD and healthy control subjects were recruited. Genomic DNA was extracted from the peripheral venous blood. Genotyping for SNP rs10033900: T > C, rs13117504: C > G and rs2285714: C > T in the upstream of the CFI gene was determined by using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Statistical analysis was performed using the R statistical analysis package. RESULTS: A total of three hundreds and seventy nine participants were enrolled in the study, including 119 patients with exudative AMD, 120 patients with early AMD and 140 control individuals without AMD. Frequency of the minor allele C of rs10033900 in exudative AMD, early AMD and control groups were 17.4% (40/230), 22.5% (54/240) and 29.3% (82/280), respectively. Significant association of rs10033900 was detected with exudative AMD (χ(2) = 9.82, P = 0.002, OR = 0.57, 95%CI: 0.36 - 0.88), but not with early AMD (χ(2) = 3.08, P = 0.079). Frequency of the minor allele G of rs13117504 in exudative AMD, early AMD and control groups were 38.6% (91/236), 54.2% (130/240) and 51.8% (145/280), respectively. Significant association of rs13117504 was detected with exudative AMD (χ(2) = 9.03, P = 0.003, OR = 0.56, 95%CI: 0.39 - 0.82), but not with early AMD (χ(2) = 0.29, P = 0.59). No association was detected between rs2285714 and exudative AMD (χ(2) = 0.72, P = 0.31) or between rs2285714 and early AMD (χ(2) = 2.30, P = 0.13). CONCLUSION: The minor allele of rs10033900 and rs13117504 in the CFI gene may have a protective role against the risk of exudative AMD.

[Relationship of angiotensin converting enzyme gene polymorphism with diabetic retinopathy].

OBJECTIVE: To investigate the association between angiotensin converting enzyme (ACE) gene locus rs1799752 insertion/deletion (I/D) polymorphism and diabetic retinopathy (DR) in type 2 diabetes mellitus. METHODS: Case-control study. Type 2 diabetes patients were recruited and assigned into DR group, which included proliferative diabetic retinopathy (PDR) group or diabetes without retinopathy (DWR) group. Volunteers without diabetes from the same community were recruited as the control group. PCR and agarose gel electrophoresis methods were adopted to determine the rs1799752 I/D polymorphism genotypes of the ACE gene. The frequency of genotypes and alleles was compared among the various groups. RESULTS: Four hundred and twelve diabetes patients: (207 subjects of DR, including 53 subjects of PDR and 205 subjects of DWR) and 97 non-diabetic control subjects were included in the study. The frequencies of the I and D alleles of ACE rs1799752 polymorphism were 54.1% and 45.9%, respectively, in the DR group, 52.8% and 47.2% in the PDR group, and 48.0% and 52.0% in the DWR group. There were no statistical differences between DR and DWR groups (χ(2) = 3.02, P > 0.05) or between PDR and DWR groups (χ(2) = 0.77, P > 0.05). Moreover, there were no statistical differences in the distribution of the ACE genotypes between DR group (II 25.1%, ID 58.0%, DD 16.9%) and DWR group (II 22.0%, ID 52.2%, DD 25.9%) (χ(2) = 4.92, P > 0.05) or between PDR group (II 20.7%, ID 64.2%, DD 15.1%) and DWR group (χ(2) = 3.19, P > 0.05). No statistical differences were found in the frequencies of the I and D alleles, and the distributions of I/D genotypes between diabetic group and the control group (χ(2) = 0.25, 4.98; P > 0.05). In the multiple regressions model including clinical factors such as the age of onset of diabetes, urinary albumin, insulin usage, creatinine, glycated hemoglobin, fast glucose, and the use of ACE inhibitor, no association was found between ACE gene polymorphism and DR (OR = 0.80, 95%CI: 0.59 - 1.09) or PDR (OR = 1.23, 95%CI: 0.78 - 1.93). CONCLUSION: There is no association between ACE rs1799752 gene insertion/deletion (I/D) polymorphism and DR in patients with type 2 diabetes mellitus.

[Diabetes self-management and its association with diabetic retinopathy in patients with type 2 diabetes].

OBJECTIVE: To investigate the association of diabetic self-management with the risk of diabetic retinopathy (DR) in patients with type 2 diabetes mellitus. METHODS: Cross-sectional study. Recruited patients with type 2 diabetes mellitus in the Desheng community of urban Beijing between November 2009 and May 2011. All patients were surveyed using a standardized questionnaire and underwent detailed ophthalmic examination. Patients were classified into DR group or diabetic without retinopathy (DWR) group according to the grading of fundus color photographs using the Early Treatment of Diabetic Retinopathy Study (ETDRS) standard grading protocol. In the DR group, proliferative diabetic retinopathy (PDR) was further defined. The overall levels of diabetes self-management in the study population were assessed and compared for the differences between DR and DWR, PDR and NPDR groups. RESULTS: One thousand one hundred patients with type 2 diabetes mellitus were recruited. The prevalence of DR was 32.1% (353/1100) in the study population. Sixty-three percent (652/1035) of patients had glycated hemoglobin (HbA1c) level less than 7.0%. The majority of patients (85.4%, 916/1072) conducted a diet control, 77.3% (827/1070) exercised, 56.0% (609/1088) monitored blood glucose regularly, 56.8% (416/733) detected HbA1c more than once every six months, 71.7% (762/1062) had ophthalmologic examination after the diagnosis of diabetes mellitus, and 47.9% (525/1097) had mydriatic check-up. Increased risk of DR was associated with longer duration of diabetes (more than 10 years) (OR = 3.90, 95% CI:2.97-5.51, P < 0.05), higher HbA1c level of ≥ 7.0% (OR = 3.23, 95% CI:2.44-4.28, P < 0.05), insulin therapy (OR = 4.82, 95% CI:3.55-6.57, P < 0.05), male gender (OR = 1.41, 95% CI:1.08-1.84, P < 0.05), lower level of education (OR = 1.90, 95% CI:1.39-2.62, P < 0.05), lower monthly income (OR = 1.46, 95% CI:1.12-1.91, P < 0.05), lower obedience to diet control (OR = 1.72, 95% CI:1.22-2.43, P < 0.05), no exercise (OR = 1.42, 95% CI:1.04-1.94, P < 0.05), change of therapeutic protocol during the last five years (OR = 1.78, 95% CI:1.32-2.41, P < 0.05), and family history of diabetes (OR = 1.35, 95% CI:1.01-1.78, P < 0.05). Increased risk of PDR was associated with the diagnosis age of diabetes (OR = 0.92, 95% CI:0.89-0.95, P < 0.05), longer duration of diabetes (more than 10 years) (OR = 4.54, 95% CI:1.95-12.32, P < 0.05), and insulin therapy (OR = 4.85, 95% CI:2.34-10.90, P < 0.05). In the multifactor logistic regression model, male gender (OR = 2.21, 95% CI:1.57-3.11, P < 0.05), lower level of education (OR = 1.98, 95% CI:1.33-2.94, P < 0.05), lower monthly income (OR = 1.66, 95% CI:1.15-2.39, P < 0.05) ,longer duration of diabetes (more than 10 years) (OR = 2.46, 95% CI:1.77-3.41, P < 0.05) ,HbA1c ≥ 7.0% (OR = 2.24, 95% CI:1.64-3.07, P < 0.05) and insulin therapy (OR = 3.38, 95% CI:2.38-4.8, P < 0.05) were associated with higher risk of DR. The diagnosis age of diabetes (OR = 0.94, 95% CI:0.91-0.98, P < 0.05) and insulin therapy (OR = 3.49, 95% CI:1.47-8.27, P < 0.05) were associated with PDR. CONCLUSION: Higher risk of DR is associated with longer duration of diabetes,insulin therapy, higher HbA1c level, male gender, and lower level of education, whereas higher risk of DR is also associated with lower obedience to diet control and less exercise, which suggest that lower level of diabetic self-management increased the risk of DR.

Association of glutathione S-transferase pi isoform single-nucleotide polymorphisms with exudative age-related macular degeneration in a Chinese population.

PURPOSE: To investigate the association between single-nucleotide polymorphisms in the pi isoform of glutathione S-transferase (GSTP1) gene and the risk of exudative age-related macular degeneration (AMD) in a Chinese case-control cohort. METHODS: A total of 131 Chinese patients with exudative AMD and 138 control individuals were recruited. Genomic DNA was extracted from venous blood leukocytes. Two common nonsynonymous single-nucleotide polymorphisms in GSTP1 (rs1695 and rs1138272) were genotyped by polymerase chain reaction followed by allele-specific restriction enzyme digestion and direct sequencing. RESULTS: Significant association with exudative AMD was detected for single-nucleotide polymorphism, rs1695 (P = 0.019). The risk G allele frequencies were 21.8% in AMD patients and 12.7% in control subjects (P = 0.007). Compared with the wild-type AA genotype, odds ratio for the risk of AMD was 1.91 (95% confidence interval, 1.09-3.35) for the heterozygous AG genotype and 2.52 (95% confidence interval, 0.6-10.61) for the homozygous GG genotype. In contrast, rs1138272 was not associated with exudative AMD (P = 1.00). The risk G allele frequencies of rs1138272 were 0.4% in AMD patients and 0.4% in control subjects (P = 1.00). CONCLUSION: Our data suggest that the GSTP1 variant rs1695 moderately increases the risk of exudative AMD. The variant rs1138272 was rare and was not associated with exudative AMD in this Chinese cohort.

[Progress in genetic studies of age-related macular degeneration].

Age related macular degeneration (AMD) is the most common cause of irreversible blindness in the aged population in the western world. AMD is considered to be a multifactorial disease with involvement of both genetic and environmental factors. With the development of molecular biology and molecular genetics, numerous susceptibility genes have been identified. Here we review the recent advances in the genetic studies regarding the AMD susceptibility genes.

[Use of buccal swab as a source of genomic DNA for genetic screening in patients with age-related macular degeneration].

OBJECTIVE: The collection of buccal cells with swabs provides a noninvasive method for obtaining genomic DNA for genetic screening. We aimed to study the feasibility of using buccal swabs for genetic screening in patients with exudative age-related macular degeneration (AMD). METHODS: Blood and buccal swabs were collected for genetic analysis from 65 patients with exudative AMD. Genomic DNA was isolated from either blood or buccal swabs. The yield of genomic DNA from both sources was determined by spectrophotometer. Genotyping for CFH, LOC387715, and HTRA1 Polymorphisms was performed using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion. Results using genomic DNA from blood or buccal swabs were compared. RESULTS: Three swabs were obtained from each patient, 2 from each side of buccal mucosa, and 1 from both upper and inferior gingival mucosa. From swabs with genomic DNA extracted within a week after sample collection, an average of (3.17 ± 1.46) µg genomic DNA was obtained from swab collected from the left or right side buccal mucosa, and (3.94 ± 1.04) µg from swab collected from the upper and inferior gingival mucosa, with relatively higher yield of genomic DNA from the upper and inferior gingival mucosa (t = 6.79, P < 0.05). From swabs of the left or right side buccal mucosa after being stored at -20°C for 12 months, an average of (3.10 ± 1.17) µg genomic DNA was obtained, which showed no statistically significant difference as compared to the yield of genomic DNA extracted from newly collected swabs (t = 0.59, P > 0.05). In all 65 patients, genomic DNA isolated from either buccal swabs or blood samples showed exactly the same results regarding the genotypes of CFH, LOC387715, and HTRA1 Polymorphisms. CONCLUSIONS: Buccal swab is a simple, noninvasive, and reliable source for obtaining genomic DNA. Swabs stored for 12 months at -20°C provide similar amount of genomic DNA as the freshly collected swabs.

[Interaction of susceptibility genes in patients with exudative age-related macular degeneration].

OBJECTIVE: To determine the interaction of susceptibility genes in patients with exudative age-related macular degeneration (AMD) in a Chinese case-control cohort. METHODS: It was a case-control study. Six single nucleotide polymorphisms (SNPs) previously genotyped in cases with exudative AMD and control individuals, including complement factor H (CFH) non-coding variant rs1410996, CFH rs1061170 (Y402H), LOC387715 rs10490924, C3 rs2230199 (R102G), C3 rs1047286 (P314L), and HTRA1 rs11200638, were selected for analyzing the interactions among susceptibility genes. The numerical data were examined by Student t test. The genotype distributions between cases and controls were compared using the Chi2 test. Genetic interactions were examined using logistic regression model and synergy index (SI) value based on crossover analysis table. RESULTS: A total of 150 cases with exudative AMD (88 male, 62 female) and 161 control individuals (84 male, 77 female) were included in this study. There was no significant difference in age (t = 0.91, P = 0.37) or gender (Chi2 = 1.32, P = 0.25) between the AMD cases and the controls. SNPs associated with the risk of exudative AMD included CFH non-coding variant rs1410996 (Chi2 = 17.83, P < 0.05), LOC387715 rs10490924 (Chi2 = 17.71, P < 0.05) and HTRA1 rs11200138 (Chi2 = 2.77, P < 0.05). No interaction was observed between CFH rs1410996 and LOC387715 rs10490924 (logistic regression, P = 0.41; SI = 1.04, P = 0.45) or between CFH rs1410996 and HTRA1 rs 11200138 (logistic regression, P = 0.91; SI = 1.42, P = 0.17). CONCLUSION: The data suggest that LOC387715 rs10490924 / HTRA1 rs11200138 and CFH rs1410996 are independently associated with the risk of exudative AMD in Chinese.

Apolipoprotein E gene and age-related macular degeneration in a Chinese population.

PURPOSE: To examine the association between apolipoprotein E (APOE) polymorphisms and age-related macular degeneration (AMD) in a Chinese population. METHODS: The study consisted of 712 subjects, including 201 controls, 363 cases with early AMD, and 148 cases with exudative AMD. Genomic DNA was extracted from venous blood leukocytes. Common allelic variants of APOE (ε2, ε3, and ε4) were analyzed by PCR and direct sequencing. RESULTS: APOE ε3ε3 was the most frequent genotype, with a frequency of 72.6% in controls, 72.5% in early AMD, and 70.3% in exudative AMD. Frequency of the ε2 allele was 6.7% in controls, 7.4% in early AMD, and 8.8% in exudative AMD. Frequency of the ε4 allele was 8.7% in controls, 7.7% in early AMD, and 7.8% in exudative AMD. No statistically significant difference in APOE genotype and allele frequency distribution was observed among controls, cases with early AMD, and cases with exudative AMD. For ε2 allele carriers, the odds ratio was 1.12 (95% confidence interval [CI], 0.65-1.93) for early AMD and 1.06 (95% CI, 0.53-2.10) for exudative AMD. For ε4 allele carriers, the odds ratio was 1.04 (95% CI, 0.61-1.75) for early AMD and 0.83 (95% CI, 0.42-1.62) for exudative AMD. CONCLUSIONS: Our data provide no evidence to support an association of APOE polymorphisms with early or exudative AMD, suggesting that APOE is less likely to be a major AMD susceptibility gene in the Chinese population.

Polymorphisms in the vascular endothelial growth factor gene and the risk of diabetic retinopathy in Chinese patients with type 2 diabetes.

PURPOSE: To investigate whether single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene are associated with diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: A total of 268 patients with T2DM (129 with DR and 139 without DR) were recruited and enrolled in the study. Patients with T2DM were assigned to a DR group or a diabetic-without-retinopathy group, based on the duration of diabetes and grading of fundus images. Genotypes of eight SNPs in the VEGF gene (rs699947, rs833061, rs13207351, rs2010963, rs833069, rs2146323, rs3025021, and rs3025039) were analyzed using a mass-array genotyping system, and an association study was performed. RESULTS: After adjusting for covariates, a significant association of DR was observed with the homozygous genotype of the minor allele for promoter SNPs rs699947 (odds ratio (OR)=3.54, 95% confidence interval (CI): 1.12-11.19), rs833061 (OR=3.72, 95% CI: 1.17-11.85) and rs13207351 (OR=3.76, 95% CI: 1.21-11.71). A significant association of DR was also observed with haplotype ACA, as defined by minor alleles of promoter SNPs rs699947, rs833061, and rs13207351 (OR=1.52, 95% CI: 1.03-2.24), and haplotype GAA, as defined by SNPs rs2010963, rs833069, and rs2146323 (OR=1.62, 95% CI: 1.08-2.41). CONCLUSIONS: Our data suggest that polymorphisms in the promoter region of the VEGF gene increase the risk of DR in Chinese patients with T2DM.

[Mutation analysis in a family of Leber hereditary optic neuropathy].

OBJECTIVE: To identify the disease-causing mutation in a family of Leber hereditary optic neuropathy (LHON). METHODS: Clinical data and family information were collected. Peripheral venous blood was drawn from patients and family members who agreed to donate the blood samples. Genomic DNA was extracted from blood leukocytes. Three primary mitochondrial DNA (mtDNA) mutations, G3460A, G11778A, and T14484C were screened using a method of polymerase chain reaction (PCR) followed by direct sequencing. RESULTS: This 3-generation family had 14 members. Seven family members were affected, including 5 female patients and 2 male patients. Pedigree analysis showed maternal inheritance. Mutation analysis in 4 affected and 3 unaffected family members showed G11778A mutation in all 4 affected and 2 of the 3 unaffected individuals. CONCLUSIONS: G11778A mutation in mtDNA is the disease-causing mutation in this family of LHON. For the mutation carriers, early intervention may prevent or delay the onset of the disease.