Chengguo Zuo

The types and severity of high myopic maculopathy in Chinese patients

Citation information: Chen H, Wen F, Li H, Zuo C, Zhang X, Huang S & Luo G. The types and severity of high myopic maculopathy in Chinese patients. Ophthalmic Physiol Opt 2011. doi: 10.1111/j.1475‐1313.2011.00861.x

Spectral-Domain Optical Coherence Tomographic Findings at Each Stage of Punctate Inner Choroidopathy

PURPOSE To describe the natural course of punctate inner choroidopathy (PIC) using spectral-domain optical coherence tomography (SD-OCT). DESIGN Prospective observational case series. PARTICIPANTS Forty-two consecutive patients (60 eyes) with PIC with at least 3 months of follow-up. METHODS Serial SD-OCT images were obtained from both eyes of each participant at each visit. MAIN OUTCOME MEASURES The morphologic characteristics of each stage of PIC lesions observed by SD-OCT. RESULTS Continued stage progression of PIC lesions was observed in 27 eyes (45%), among which choroidal thickness changes were observed in 8 eyes (30%). Stage I lesion showed a normal appearance or slight irregularities in the outer nuclear layer. Stage II lesion appeared as a focal elevation of the retinal pigment epithelium (RPE) with corresponding disruption of the inner and outer segments of the photoreceptor interface. Stage III lesion broke through the RPE, forming a hump-shaped chorioretinal nodule with moderate reflectivity beneath the outer plexiform layer (OPL), generally with subsequent disruption of Bruchs membrane. Nodules occasionally invaded the inner retina, causing segmental retinal phlebitis in 2 eyes. Stage IV lesion regressed in a retrograde manner with tissue loss from the photoreceptor layer and inner choroid, finally leaving a V-shaped hernia of the OPL and inner retina into the choroid. Stage V lesion gradually eliminated the photoreceptors around the lesion; this process was accompanied by RPE proliferation at multiple levels, which reduced retinal herniation. Parafoveal stage V lesions caused late occult macular atrophy in 4 eyes. Choroidal thickness increased throughout the active phase and reached a peak at stage III; this parameter then significantly decreased at stage IV and gradually reached a minimum that was lower than the initial value at stage I. CONCLUSIONS Punctate inner choroidopathy is a chorioretinitis rather than an inner choroidopathy. Spectral-domain OCT characterized a 5-stage evolution of PIC lesions: choroidal infiltration, formation of sub-RPE nodules, and then chorioretinal nodules, regression, and retinal herniation.

Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration.

PURPOSE Polypoidal choroidal vasculopathy (PCV) contains aneurismal morphologic and histopathologic feature and it is considered to be a possible distinct entity from neovascular age-related macular degeneration (AMD). In this study, the association of identified risk variants for intracranial aneurysm on chromosome 9p21 with PCV and neovascular AMD in a Chinese Han population was investigated. METHODS The authors genotyped rs1333040 and rs10757278 on 9p21 in 177 PCV patients, 131 neovascular AMD patients, and 182 controls using a genotyping method and direct DNA sequencing. Allele and genotypes frequencies in the PCV and neovascular AMD groups were compared with controls using a free open-source software and binary logistic regression analysis. RESULTS Rs1333040 was not associated with PCV or neovascular AMD. Rs10757278 was significantly associated with PCV [risk allele: A, P (allelic) = 0.014; odds ratio = 1.44; 95% confidence interval, 1.08-1.94], but not associated with neovascular AMD. After adjusting for sex, age, smoking status, history of hypertension, type 2 diabetes, and coronary artery disease, the odds ratio for homozygous carriers of rs10757278-A was 2.10 (95% confidence interval, 1.14-3.85) for PCV. CONCLUSIONS The rs10757278 on chromosome 9p21 is significantly associated with the risk of PCV but not with neovascular AMD in the Chinese Han population.

CLINICAL FEATURES OF PUNCTATE INNER CHOROIDOPATHY IN CHINESE PATIENTS

Purpose: To characterize the clinical features of punctate inner choroidopathy (PIC) in Chinese patients. Methods: A retrospective chart review of all patients admitted with PIC from June 1999 to October 2009. Results: Of the 75 patients (112 eyes) diagnosed with PIC, 72% were women, 80% were myopic, and 49% exhibited bilateral involvement. The mean age at presentation was 32 years. Blurred central vision (64%) and scotoma (40%) were the most common symptoms. Multifocal PIC lesions were mostly restricted to the posterior pole (95%). The acute lesions were yellow and demonstrated hyperfluorescence (61%) or mild hyperfluorescence (36%) on fluorescein angiography, mostly (75%) <200 μm in diameter and <10 in number. Indocyanine angiography showed subclinical hypofluorescent spots in 32% of the affected eyes. Choroidal neovascularization developed in 63% of affected eyes. Papilledema (3%) and segmental retinal phlebitis (2%) were rare. Intact follow-up data of 27 patients (43 eyes) were available. Acute lesions turned into punched-out atrophic lesions within 3 months. New visible lesions developed in 5 eyes within 1 year after symptom onset. New choroidal neovascularization developed in five eyes. The mean best-corrected visual acuity significantly improved at last follow-up (P = 0.039). Conclusion: Punctate inner choroidopathy in Chinese is not rare and primarily affects young myopic women. It features multifocal, small, yellow lesions that develop within a short period, principally in the posterior pole, with subsequent atrophy. Complicated choroidal neovascularization is frequent. General visual prognosis is moderately good.

Clinical Characteristics of Inflammatory Choroidal Neovascularization in a Chinese Population.

Abstract Purpose: To describe demographic features and clinical and imaging characteristics of inflammatory choroidal neovascularization (CNV) in a Chinese population. Methods: A retrospective case review of patients with CNV secondary to uveitis from 2002 to 2013. Results: A total of 125 patients (150 eyes, 166 CNVs; bifocal CNVs in 16 eyes), 64% of whom were women, were reviewed. The mean age was 35.86 years. The proportions of patients with punctate inner choroidopathy (PIC), multifocal choroiditis (MFC), and Vogt-Koyanagi-Harada (VKH) were 50.4, 22.4, and 8%. All of the cases were classic CNV in fluorocein angiography and type 2 CNV in OCT. The proportion of subfoveal lesions in active CNV (30.09%) was less than that in inactive CNV (60.38%). Conclusions: PIC, MFC, and VKH were the three primary specific types of uveitis with inflammatory CNV in this study. Inflammatory CNV tended to break though the retinal pigment epithelium and beneath the neurosensory retina. Moreover, inflammatory CNV was usually nonsubfoveal when it occurred.

Lack of Association with PEDF Met72Thr Variant in Neovascular Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population

Purpose: To investigate whether Met72Thr (rs1136287), a common single nucleotide polymorphism (SNP) variant of the pigment epithelium-derived factor (PEDF) gene, is associated with neovascular age-related macular degeneration (nAMD) or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort. Methods: We genotyped Met72Thr (rs1136287) in persons of Han Chinese descent: 177 PCV patients, 131 nAMD patients, and 182 control persons. Genotyping was accomplished using the Multiplex SNaPshot system and by direct DNA sequencing. Genotypes and allele frequencies of patients and controls were evaluated for the SNP using PLINK software. Results: The minor allele frequency of the PEDF Met72Thr variant did not differ significantly between either PCV or nAMD and the control group: p = 0.3822 and p = 0.9822, respectively. The p-values for the additive, dominant, and recessive models were not statistically significant for PCV or nAMD. Conclusions: No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort.

An rs9621532 Variant Near the TIMP3 Gene is not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Han Population

Background: Recently, two genome-wide association studies with large cohorts both identified rs9621532, a new single nucleotide polymorphism (SNP) that is associated with advanced age-related macular degeneration (AMD) and located near the TIMP3 gene. Previous studies have demonstrated that AMD and polypoidal choroidal vasculopathy (PCV) share some common genetic background and that the incidence of PCV is higher in Asian populations than Caucasian populations. In this study, we aimed to investigate whether the rs9621532 SNP is associated with neovascular AMD (nAMD) and PCV in a Chinese Han population. Methods: We performed a case-control study in a Chinese Han population. The rs9621532 SNP was genotyped in 136 patients with nAMD, 195 patients with PCV, and 181 control individuals using the Multiplex SNaPshot system and the direct DNA sequencing technique. Rs9621532 genotypes and allele frequencies in the nAMD, PCV and control groups were evaluated using PLINK software. Results: In the nAMD, PCV, and control groups, the minor allele frequencies of the rs9621532 variant were 0.05147, 0.02564, and 0.03039, respectively. The rs9621532 SNP was not significantly associated with susceptibility to nAMD (p = 0.1773) or PCV (p = 0.6933). None of the p-values for the additive or dominant models were found to be statistically significant in the nAMD or PCV groups. No recessive homozygotes were genotyped in any of the three groups. Conclusions: No evidence was found to support an association between the rs9621532 variant and susceptibility to either nAMD or PCV in a Chinese Han population.

Macular pigment optical density in a healthy Chinese population.

To measure the macular pigment optical density (MPOD) values in a healthy Chinese population using the one‐wavelength reflectometry method and to investigate the relationships of MPOD with age, sex, body mass index (BMI), smoking and lens opacities.

Three Variants of or near VEGF-A Gene are Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population

Abstract Purpose: To investigate whether three previously identified variants for age-related macular degeneration (AMD), the single nucleotide polymorphism (SNP) variants of or near the vascular endothelial growth factor A gene (VEGFA), were associated with neovascular AMD or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort. Methods: This was a case-control study comprising 251 PCV patients, 157 neovascular AMD patients, and 204 control participants in a Han Chinese population. The rs833069, rs943080 and rs4711751 SNP were genotyped using the Multiplex SNaPshot system. Genotypes and allele frequencies of patients and controls were evaluated for the SNPs using PLINK software. Results: None of the allelic or genotypic effects of these three variants was significantly associated with PCV, neovascular AMD or combined both patient categories. Conclusions: No association was found to support the role for the rs833069, rs943080 and rs4711751 variants of or near VEGFA gene in susceptibility to either PCV or neovascular AMD in Han Chinese population. Further replication is necessary to validate these results.

Association of rs6982567 near GDF6 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Han Chinese cohort

BackgroundGrowth differentiation factor 6 (GDF6) has been reported to be a novel disease gene for age-related macular degeneration (AMD) in Caucasians. This study aimed to investigate whether rs6982567 was associated with neovascular AMD (nAMD) or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort.MethodsA total of 612 participants (251 PCV patients, 157 nAMD patients and 204 controls) were included in this study. The SNaPshot system was used to genotype the rs6982567. PLINK software was used to evaluate the genotypes and allele frequencies of patients and controls.ResultsThe allele frequencies of rs6982567 were not significantly associated with nAMD, PCV or PCV and nAMD combined. Subjects with the TT genotype had a 2.42-fold greater risk of PCV (95% confidence interval, 1.07-5.43, p = 0.0290) than subjects with CC genotype. A recessive model of rs6982567 was statistically significantly associated with PCV (odds ratio, 2.29; 95% confidence interval, 1.04-5.05; p = 0.0351). However, the association did not withstand stringent Bonferroni correction. There were no significant differences in genotype distributions or models in nAMD.ConclusionsThere was a possible weak association between the rs6982567 near GDF6 and PCV in this replication study with an independent Han Chinese cohort. A complete survey of the GDF6 locus with a larger sample size is needed in future studies.