Coinheritance of OLFM2 and SIX6 variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report

BACKGROUND Juvenile-onset primary open-angle glaucoma(JOAG),characterized by severe elevation of intraocular pressure and optic neuropathy prior to the age of 40,is a rare subtype of primary open-angle glaucoma.Several genetic mutations have been associated with JOAG.CASE SUMMARY The proband patient was a young male,diagnosed with primary open-angle glaucoma at the age of 27.The patient and his unaffected parents who have been excluded from classic genetic mutations for primary open-angle glaucoma were included to explore for other possible genetic variants through whole genome sequencing and bioinformatics analysis.In this trio,we found two heterozygous variants inherited from the parents in the proband:c.281G>A,p.Arg94His in OLFM2 and c.177C>G,p.Ile59Met in SIX6.Both genetic mutations are predicted through bioinformatics analysis to replace evolutionary conserved amino acids,therefore rendering a pathogenic effect on proteins.In contrast,very low frequencies for these genetic mutations were recorded in most common control databases.CONCLUSION This is the first report on coinherited mutations of OLFM2 and SIX6 in a JOAG family,which shows the complexity of JOAG inheritance.Large-scale clinical screening and molecular functional investigations on these coinherited mutations are imperative to improve our understanding of the development of JOAG.

Suicide risk in juvenile open angle glaucoma patients

AIM:To investigate the association between juvenile open angle glaucoma(JOAG)and mental health among Koreans.METHODS:This study used nationally representative data from the 8th Korea National Health and Nutrition Examination Survey(KNHANES)2021.Glaucoma diagnosis followed the International Society of Geographical and Epidemiological Ophthalmology criteria based on glaucomatous structural defects,visual field defects,corrected vision,and intraocular pressure.As outcomes,suicidal behaviors,psychiatric counseling,and depression were evaluated through mental health questionnaires.Odds ratios(ORs)with 95%confidence intervals(CIs)were estimated using logistic regression models,adjusting for covariates.RESULTS:Among 7090 participants,3446 met the inclusion criteria for analysis,and 88(2.6%)were diagnosed with open angle glaucoma(OAG).After adjusting for age,sex,and best-corrected visual acuity(VA),participants with OAG were revealed to have significantly higher odds of suicidal behaviors(i.e.,ideation,planning,or attempts)compared with those without OAG(OR:2.70;95%CI:1.12-6.54;P=0.028).This association remained significant after further adjustments for socioeconomic status,lifestyle factors,and presence of chronic conditions(P=0.031 and 0.035,respectively).However,there was no significant difference for the other two outcomes,psychiatric counseling and depression.An age-stratified analysis revealed a stronger association between OAG and suicidal behaviors in younger JOAG participants(<40y)than in older OAG participants(≥40y;OR:3.80 vs 2.22;95%CI:0.79-18.22 vs 0.56-8.80,respectively).CONCLUSION:OAG patients show a higher risk of suicidal behaviors than those without glaucoma particularly in JOAG patients.

Cost of Medical Treatment for Primary Open-Angle Glaucoma in Relation to Patients’ Income and Its Impact on the Prognosis of the Disease, in Bouaké University Hospital

Introduction: Medical treatment for POAG is continuous and lifelong treatment. The aim of this study was to evaluate the relationship between the cost of this treatment and patients’ income and the impact of this relationship on treatment compliance. Materials and Methods: Prospective cross-sectional study with a descriptive aim covering sociodemographic data, average incomes, and direct and indirect costs of treatment of 57 patients followed for POAG during the period from January 1, 2012, to December 31, 2016 (5 years). Results: The patients were aged 25 to 77 years (mean = 54.4 years) with a male predominance (sex ratio = 1.5). Retirees were the most represented (26.32%), followed by workers in the informal sector (14.04%) and housewives (12.28%). Patients who had an annual income less than or equal to 900,000 CFA francs (€1370.83) per year represented 56.14% and those who did not have health coverage represented 57.89%. The treatment was monotherapy (64.91%), dual therapy (31.58%) or triple therapy (3.05%) and the average ratio of “annual cost of treatment to annual income” was 0.56 with for maximum 2.23 and 0.02 as minimum. Patients who considered the cost of treatment unbearable for their income represented 78.95%. Conclusion: Prevention of blindness due to glaucoma requires early detection but also the establishment of health coverage mechanisms to improve compliance with medical treatment. In addition, consideration should be given to the development of glaucoma surgery in our country, the indication of which could be the first intention in certain patients, considering for those patients, the geographical and financial accessibility of medical treatment. .

Epidemiological, Clinical, Therapeutic and Evolutive Profile of Primary Open-Angle Glaucoma in a Cameroonian Population

Background: Sub-Saharan Africa has the highest prevalence of primary open-angle glaucoma (POAG), at 4.2%. The efficacy of medical treatment has been demonstrated and remains one of the treatments of choice for POAG. However, in sub-Saharan Africa, its effectiveness has many challenges, due to multiple factors, including cost and access to care. Thus, the present study aimed to determine the epidemiological, clinical, therapeutic and evolutive profile of primary open-angle glaucoma patients. Methodology: A descriptive cross-sectional study was carried out in two hospitals in western Cameroon. Epidemiological, clinical, therapeutic, and evolutionary data on intraocular pressure at one year after medical treatment were analyzed. SPSS version 23 software was used for statistical analysis, with a significant p-value set at 5%. Results: A total of 201 patients with POAG were included in the study. The population comprised 100 men and 101 women, with a mean age of 54 ± 12 years. At diagnosis, the mean intraocular pressure was 23.9 ± 8.70 mmHg for the right eye and 25.5 ± 9.57 mmHg for the left eye. The mean cup/disc ratio was 0.64 ± 0.2 [0.2-1] and 0.67 ± 0.19 [02-1] in the right and left eyes, respectively. Monotherapy was the most prescribed treatment [59.2%]. After one year of treatment, intraocular pressure was reduced by 15.5% with beta-blockers, 23.66% with prostaglandins, 19.11% with carbonic anhydrase inhibitors, 35, 92% with beta-blockers and carbonic anhydrase inhibitors, 25.92% with beta-blockers and prostaglandins, 48.03% with carbonic anhydrase inhibitors and prostaglandin agonists, and 38.77% with triple therapy. Taking glaucoma severity into account, a significant reduction in intraocular pressure at one year was observed in all participants [p 0.05]. However, the target pressure was obtained in 47%, 20% and 14% of eyes suffering of mild, moderate, and severe grade of POAG respectively. Conclusion: In the present study, there was a significant reduction in intraocular pressure after one year of medical treatment. However, the reduction in intraocular pressure does not allow the target pressure to be reached in severe forms. Thus, alternatives to the medical treatment of POAG should be discussed early in the present context. .

Prevalence of Open-angle Glaucoma in Southwestern China: the Yongchuan Glaucoma Study

This study examined the prevalence of primary open-angle glaucoma（POAG） among residents aged ≥50 years living in Yongchuan district of Chongqing. Stratified cluster sampling was employed in random selection to estimate the prevalence of glaucoma from April to June, 2005. Twenty-nine villages or neighborhood communities were randomly selected in urban area（Zhongshan Road）, suburban area（Shanjiao Town） and exurban area（Zhutuo Town） of this district. All the respondents underwent detailed ophthalmic examinations. The examinations included questionnaire investigation, visual acuity test, naked-eye examination, measurement of peripheral anterior chamber depth（Van Herrick＇s technique）, detection of intraocluar pressure（IOP） with a Perkins hand-held applanation tonometer（HA-2） and examination of the optic disc by using a 78 diopters（D） lens（including the cup-disc ratio, cup/disc ratio asymmetries, horizontal and vertical diameter, notching and optic disc hemorrhages）. A total of 5938 residents were actually examined, and the response rate was 85.19%. The crude prevalence of POAG was 0.86%（n=51/5938, 95% CI 0.64%–1.11%）. There were 24 males and 27 females in the glaucoma group. The glaucoma prevalence was not significant different in case number between the male and female subjects（P=0.4900）. Furthermore, no association between age or schooling and POAG was noted（P=0.8030, 0.0734）. Out of 51 subjects with POAG, unilateral glaucoma-related blindness occurred in 38 subjects（74.5%） and bilateral glaucoma-related blindness was found in 7 subjects（13.7%）. This study exhibited that the prevalence of POAG was 0.86% among residents aged ≥50 years living in Yongchuan District of Chongqing. The vision loss caused by POAG in this population was obviously higher than that previously reported in other studies. Glaucoma management, detection of affected persons and handling of the burden of glaucoma should be the priorities of the agenda of local health authorities of Western China.

Selective laser trabeculoplasty as adjunctive treatment for open-angle glaucoma vs following incisional glaucoma surgery in Chinese eyes

BACKGROUND Selective laser trabeculoplasty(SLT)is a relatively safe and effective therapy in lowering intraocular pressures(IOP)for glaucoma.AIM To study the long-term effects of SLT on IOP and number of glaucoma medications used in Chinese eyes.METHODS This is a retrospective study in which 75 eyes of 70 patients with open-angle glaucoma(OAG,n=36)and eyes with prior glaucoma surgery(PGS,n=39)were included.Changes in mean IOP and number of glaucoma medications used evaluated at 1 d,1 wk,1 mo,3 mo,6 mo,12 mo,and 36 mo after laser treatment.RESULTS All patients(33 male,37 female)were Chinese.The mean age was 44.34±16.14years.Mean pre-SLT IOP was 22.75±2.08 mmHg in OAG and 22.52±2.62 mmHg in PGS.Mean IOP was significantly reduced 1 d,1 wk,1 mo and 3 mo after laser treatment(P<0.05,respectively).Whereas,there were no significant differences between baseline and SLT treated groups at the 6th month both in OAG(P=0.347,P>0.05)and in PGS(P=0.309,P>0.05).Six months after SLT treatment,some patients received retreatment of SLT or were given more topical IOP-lowering medication to control the IOP.By the end of our study,the average IOP decreased to 20.73±1.82 mmHg in OAG and 20.49±1.53 mmHg in PGS groups.The number of glaucoma medications used was significantly reduced until the end of 3 years compared to baseline.CONCLUSION SLT could reduce IOP as adjunctive treatment both in OAG and PGS groups.SLT significantly reduced the number of glaucoma medications used 3-years following treatment in glaucoma patients.

Abnormal Systemic and Ocular Responses to the Valsalva Manoeuvre in Primary Open-Angle Glaucoma:A Case for Autonomic Failure?

Objective This study aimed to examine the association of primary open-angle glaucoma(POAG)with autonomic dysfunction by assessing the differences in systemic and ocular responses to an autonomic provocation test,the Valsalva manoeuvre(VM),between POAG patients and normal subjects.Methods Forty POAG and forty control subjects were subjected to the VM.Systemic and ocular parameters were measured at baseline,phase 2,and phase 4 of the VM(VM2 and VM4),where VM2 and VM4 are sympathetic and parasympathetic nervous activation states,respectively.Heart rate variability was used to assess the autonomic nervous activity,among which the high-frequency component(HF)and the low-frequency(LF)/HF ratio were used as indices of parasympathetic and sympathetic activation,respectively.Results POAG patients demonstrated higher sympathetic activation(LF/HF ratio median:2.17 vs.1.53,P=0.000)than controls at baseline and exhibited attenuated sympathetic and parasympathetic responses(a smaller change in LF/HF and HF values)during the VM than controls.During VM,the intraocular pressure(IOP),mean blood pressure(MAP),mean ocular perfusion pressure(MOPP),and the Schlemm’s canal area(SCAR)increased from baseline to VM2 and then decreased from VM2 to VM4 in both the POAG and control groups(all P<0.05).However,when we compared the changes above,the fluctuations in IOP,MAP,and MOPP were more pronounced in POAG than in controls(all P<0.05),while the changes in amplitudes of SCAR were smaller in POAG(P<0.05).Furthermore,from VM2 to VM4,the choroid thickness(ChT)in the POAG group was significantly decreased,while it was unchanged in normal subjects(P=0.258).A regression analysis showed a significant correlation of the baseline LF/HF with IOP change values(ΔIOP)from baseline to VM2 in POAG(R^(2)=0.147,P=0.014).Conclusion Patients with POAG showed more pronounced fluctuations in IOP,MAP,MOPP and ChT during the VM than controls.These reactions could be associated with autonomic dysfunction in POAG.

Incidence of Primary Open-Angle Glaucoma at the Flamboyants Communal Medical Center of Conakry, Guinea

Background: Primary Open-Angle Glaucoma (POAG) is a chronic, progressive optic neuropathy of multifactorial origin defined by alterations in the visual field, progressive loss of optic nerve fibers and ganglion cells, and an open iridocorneal angle in gonioscopy. It is the world’s leading cause of irreversible blindness. There is no epidemiological study in Guinea that allows us to locate the real level of the problem. The objective of this study is to determine the hospital incidence of POAG at the Centre Médical Communal (CMC) in the Flamboyants. Patients and Method: This was a descriptive cross-sectional study with a prospective collection for one year, from April 1, 2020 to March 31, 2021, in patients aged at least 40 years, received in consultation at the CMC in the Flamboyants. The diagnostic criterion for a new case of glaucoma was the presence in a patient of the following two signs: (excavation of the optical disc C/D ≥ 0.5 and alteration of the visual field) with an open angle at least stage 4 of the Shaffer and Etienne classification associated or not with ocular hypertonia and having never received anti glaucoma treatment. We described variables related to sociodemographic characteristics, visual acuity, intraocular pressures, papillary excavations, and visual field surveys. Informed consent from patients was sought and obtained. The confidentiality of the files was guaranteed. Results: 68 new cases of POAG were diagnosed out of 3220 consultations, an incidence rate of 2.11%. The average age was 58.2 years (10.64 with a male predominance of 63.23%. A family history of glaucoma was present in 11.36% of cases. Visual acuity was poor Conclusion: This study has shown us that POAG in our environment is relatively common, early onset, and rapidly evolving. The implementation of a rapid and reliable screening strategy by the Eye Health Program will make it possible to manage glaucoma from the earliest stages.

Supraciliary microstenting with phacoemulsification in patients with open-angle glaucoma and cataracts

Elevated intraocular pressure(IOP)is a major risk factor for the development or progression of glaucoma.Lowering IOP is the only proven therapeutic approach to the management of glaucoma.IOP can be lowered by medication,laser treatment or surgery(1).Generally,instillation of IOP-

Neovascular Glaucoma in a Patient with X-linked Juvenile Retinoschisis

Purpose: To report the rubeosis iridis and neovascular glaucoma findings in one patient of X-linked juvenile retinoschisis (XLRS).Methods: Color fundus photography, fluorescein angiography (FFA), OCT and B-scan were performed in a patient with X-linked juvenile retinoschisis complicated with neovascular glaucoma.Result: Color fundus photography, fluorescein angiography (FFA), OCT and B-scan unveiled a rare condition of XLRS complicated with neovascular glaucoma.Conclusion: XLRS may complicate with neovascular glaucoma. It is necessary to test OCT, FFA, ERG and carefully examine the fundus of the follow eye when it comes to uncertain neovascular glaucoma of youth and child. And only in this way, can we exclude XLRS.

SEQUENTIAL INTRAOCULAR PRESSURE MEASUREMENTS IN SUSPECTED OPEN-ANGLE GLAUCOMA

Objective To evaluate the variations of intraocular pressure （lOP） in suspected open-angle glaucoma （OAG） patients. Methods The variations of lOP were measured in 216 eyes of suspected OAG patients at 4-hour intervals for 48 h. Based on the results of the serial lOP measurements, optic disc changed and visual field defected, the patients were diagnosed as primary OAG （ POAG ）, normal tension glaucoma （NTG）, ocular hypertension （ OHT） , or physiologic cup （PC）. Results After the serial lOP measurements, 16. 7% of the suspected OAG patients were diagnosed as POAG, 32. 4% as NTG, 24. 5% as OHT, and 26. 4% as PC. The highest percentages of the POAG group had peak lOP at 8 AM （19. 4% ） and their trough lOP at 10 PM （27. 8% ） ; the NTG group had peak lOP at 12 AM （18. 6% ） and their trough lOP at 12 PM （22. 9% ） ; the OHT group had peak lOP at 4 AM （22. 6% ） and their trough lOP at 10 PM （26. 4% ） ; and the PC group had peak lOP at 4 AM （ 21. 1% ） and their trough lOP at 12 PM （ 21. 1% ）. The percentages of peak lOP outside clinic （ 8 AM - 4 PM） in the POAG, NTG, OHT and PC groups were 55. 6%, 50. 0%, 58. 4% and 45. 7%, respectively. The mean magnitude of variance was 5. 1 - 6. 7 mmHg in those suspected OAG patients. There was a strong positive correlation in lOP between both eyes at each time point of measurement and the variation curves of the right and left eyes had parallel profiles in those suspected OAG patients. Conclusion Serial measurement of lOP is still needed, in order not to miss the peak and the trough lOP readings in suspected OAG patients, which helps in better management of glaucoma.

Clinical relevance of the glucocorticoid receptor gene polymorphisms in glucocorticoid-induced ocular hypertension and primary open angle glaucoma

AIM: To avoid the side effects of ocular hypertension of glucocorticoid(GC) usage in eye, we must identify susceptible individuals, which exists in about one-third of all population. Further, the majority of all primary open angle glaucoma(POAG) patients show this phenotype.Glucocorticoid receptor(GR) regulates C responsiveness in trabecular meshwork(TM) cells. In this study, single nucleotide polymorphism(SNP) genotyping was used to determine whether there are differences in the Bcl I(rs41423247) and N363S(rs6195) polymorphisms of the GR gene in healthy and POAG patients, and glucocorticoid-induced ocular hypertension(GIOH)populations.METHODS: Three hundred and twenty-seven unrelated Chinese adults, including 111 normal controls, 117 GIOH subjects and 99 POAG patients, were recruited. DNA samples were prepared and the Bcl I and N363 S polymorphisms were screened using real-time polymerase chain reaction(RT-PCR)-restriction fragment length polymorphism(RFLP) analysis. Frequencies of the Bcl I and N363 S polymorphisms were determined and compared using Fisher’s exact test and the Chi-squared test.RESULTS: Only the Bcl I polymorphism was identified in the Chinese Han population. The frequency of the G allele was 21.6 % in normal controls, 18.3% in GIOH patients, and 13.64% in the POAG patients. There was no significant difference in polymorphism or allele frequency in the 3 groups. Furthermore, no N363 S polymorphism was found in the study subjects.CONCLUSION: The Bcl I polymorphisms in GR gene had no association with GIOH and POAG patients, and N363 S polymorphism might not exist in the Chinese Han population. Therefore, the Bcl I polymorphism might not be responsible for the development of GC-induced ocular hypertension or POAG.

Agreement in identification of glaucomatous progression between the optic disc photography and Heidelberg Retina Tomography in young glaucomatous patients

AIM:To evaluate concordance between the clinical assessment of glaucomatous progression of the optic disc photography and progression identified by Heidelberg Retina Tomograph(HRT)in patients with suspected primary juvenile open angle glaucoma(JOAG).METHODS:Optic disc photographs and corresponding HRTⅡseries were reviewed.Optic disc changes between first and final photographs were noted as well as progression identified by HRT topographic change analysis(TCA)and rim area regression line(RARL)Agreement between progression indentified by photography and HRT methods was assessed.Progression,determined from optic disc photographs by consensus assessment was used as the reference standard.RESULTS:A total of 31 patients(59 eyes)with suspected JOAG were studied.Agreement for progression/no progression between TCA and photography was obtained in 4 progressing eyes and 38stable eyes(71.19%,k=0.11).Agreement for progression/no progression between RARL and photography was detected in 5 progressing eyes and in 34 stable eyes(66.10%,k=0.15).The number of HRT per patient was statistically higher in the progressing group(P=0.034).CONCLUSION:Agreement for detection of longitudinal changes between photography and HRT analysis was poor.One way to improve the chance of discovery of the progression could be increasing the number of HRT examinations.

Ethylenediaminetetraacetic Acid Chelation for Band Keratopathy before Ab Interno Glaucoma Surgery

An 87-year-old woman with primary open-angle glaucoma presented to our hospital. Although the combined cataract and minimally invasive glaucoma surgeries (MIGS) were an appropriate surgical option, the presence of band keratopathy made it difficult to perform ab interno glaucoma surgery in her right eye (OD);therefore, the corneal opacity was removed using ethylenediaminetetraacetic acid (EDTA) chelation procedure. One month after chelation, microhook ab interno trabeculotomy and cataract surgery were performed successfully. Clear intraoperative visualization of the angle structures is critical for the success of these MIGS procedures. In glaucomatous eyes that require MIGS, EDTA chelation is a good neoadjuvant therapy for coexisting band keratopathy.

AB026.Ocular rigidity is correlated with glaucomatous structural damage

Background:The rigidity of the corneoscleral shell is an important biomechanical property which could be relevant in the pathophysiology of open-angle glaucoma(OAG).This study aims to evaluate the relationship between ocular rigidity(OR)and glaucomatous damage as represented by structural optical coherence tomography(OCT)-based parameters such as retinal nerve fiber layer(RNFL)and ganglion cell layer+inner plexiform layer(GCL+IPL)thicknesses.These parameters characterize the retinal layers that contain neuronal structures that form the optic nerve.Methods:Sixty-six subjects(37 with early OAG,11 with moderate to advanced OAG,16 healthy)were recruited in this study.OR measurements were carried out using a non-invasive clinical method developed by our group.As described in Beaton et al.(2015),this method,which is based on Friedenwald’s equation,involves video-rate OCT imaging and automated choroidal segmentation,as well as dynamic contour tonometry to calculate the OR coefficient.RNFL and macular GCL thicknesses were acquired using the Cirrus SD-OCT(Carl-Zeiss Meditec,Dublin,CA,USA).Correlations between OR and structural parameters in all 66 eyes were assessed using SPSS.Results:Significant correlations were found between OR and the average GCL+IPL thickness(r=0.355,P=0.004)as well as the minimum GCL+IPL thickness(r=0.340,P=0.006).Direct correlations were also found between OR and RNFL thickness in the inferior quadrant(r=0.258,P=0.036)and inferior clock hour(r=0.313,P=0.011).Conclusions:In this study,we found a positive correlation between structural OCT-based parameters and OR,perhaps indicating more structural damage in less rigid eyes.These findings could provide insight unto the pathophysiology of OAG.Further investigation is warranted to confirm the role of OR in glaucoma and elucidate whether there is a subgroup of patients for which OR plays a greater role.

青少年型开角型青光眼的遗传特征和基因研究进展

青少年型开角型青光眼(JOAG)是原发性开角型青光眼(POAG)的一个亚型,具有较高的致残率,严重影响年轻患者的生活质量。研究发现JOAG有着多样化的遗传方式,虽然JOAG通常被认为是一种常染色体显性遗传疾病,但在特定人群中,常染色体隐性遗传同样存在。而JOAG的多变遗传倾向可能是由多个关键致病基因共同调控的结果,其中包括MYOC、CYP1B1和CPAMD8等代表性基因。这些基因的突变通常与眼部组织的多种生物学过程密切相关,主要包括细胞代谢调控、氧化应激反应以及程序性死亡的异常诱导。因此,深入研究JOAG相关的致病基因至关重要,这将为揭示该疾病的发生、发展及临床表型的具体遗传背景,并且为早期识别和筛查高风险人群提供有力依据。文章旨在重点关注JOAG的遗传特征和基因研究。通过系统性回顾相关文献,总结了与JOAG疾病相关的致病基因及其突变,并探讨其在JOAG研究领域未来发展中的潜在应用和价值,为JOAG的诊断和治疗提供有益的见解。

Applications of Isolated-Check Visual Evoked Potential in Early Stage of Open-Angle Glaucoma Patients

Background： Standard automated perimetry does not sufficiently detect early open-angle glaucoma （OAG） in the clinic. New visual function tests for early glaucoma damage are therefore needed. The present study evaluated whether an isolated-check visual evoked potential （icVEP） could be used to detect visual function abnormalities in early-stage OAG and to explore potential related factors. Methods： This was a cross-sectional study. Thirty-seven OAG patients with early-stage visual field loss （mean deviation ≥ -6.00 dB） detected by the Humphrey Field Analyzer （30-2 SITA program） and 26 controls were included in this study. Optical coherence tomography （OCT） was used to detect retinal nerve fiber layer （RNFL） defects. The icVEP preferentially evaluates the magnocellular-ON pathway. VEPs were recorded and signal-to-noise ratios （SNRs） were derived based on multivariate analysis. Eyes that yielded an SNR ≤1 were considered abnormal. Receiver operating characteristic （ROC） curve analysis was used to estimate the accuracy of group classification. Correlations between SNRs and related factors were analyzed. Results： Based on an SNR criterion of 1, the icVEP had a sensitivity of 62.2% and a specificity of 92.3% for diagnosing early-stage OAG with 74.6% classification accuracy. The ROC curve analysis, however, suggested that an SNR criterion of 0.93 would produce the highest classification accuracy （77.3%）. Both RNFL thinning in the temporal superior quadrant on OCT and number of abnormal test points in the central 11° visual field （pattern deviation, P 〈 0.5%） significantly correlated with the SNR （P 〈 0.05）. Conclusions： The icVEP detected visual function abnormalities in approximately 3/5 of eyes with early-stage OAG with greater than 90% specificity. SNR correlated with both a decrease in RNFL thickness and severity of central visual field loss.

Genetic and environmental risk factors for primary open-angle glaucoma

Background Primary open-angle glaucoma (POAG) is characterized by optic nerve damage and consists of a group of genetically heterogeneous disorders. This study was to investigate the associations of genetic and environmental factors with POAG in a hospital-based Chinese population Methods Thirty-two adult onset POAG patients and 96 age-sex matched control subjects were studied by multivariable logistic regression analysis for the relationships between POAG and its risk factors including family history, diabetes, hypertension, cardiovascular diseases, cigarette smoking, alcohol consumption and polymorphisms of the myocilin and the optineurin genes Results Univariate analysis showed that POAG was related to family history, cardiovascular disease, alcohol consumption and a myocilin sequence alteration (T353I) ( P <0 04) Multivariable logistic regression analysis confirmed that POAG was significantly associated with family history ( OR =20 2), hypertension ( OR =3 58), cigarette smoking ( OR =10 8), alcohol consumption ( OR =0 028) and T353I ( OR =6 03, all P <0 05) Conclusions Family history, hypertension, cigarette smoking and T353I in the myocilin gene are risk factors for POAG Alcohol consumption, however, has a protective effect

Retinal nerve fiber layer in primary open-angle glaucoma with high myopia determined by optical coherence tomography and scanning laser polarimetry

Background Fundus changes associated with high myopia （HM） may mask those associated with primary open-angle glaucoma （POAG）. This study aim to determine the characteristics of RNFL thickness changes in patients with both POAG and HM and compare these to changes in patients with only HM. The diagnostic capabilities of both OCT and GDxVCC in this subset of patients are also evaluated. Methods Twenty-two eyes with POAG and HM （spherical equivalent （SE） between -6.0 and -12.0 D） were evaluated, and 22 eyes with HM were used for comparison. Characteristic retinal nerve fiber layer （RNFL） thickness profiles in patients with POAG and HM were examined using optical coherence tomography （OCT） and scanning laser polarimetry with variable corneal compensation （GDxVCC）, and the diagnostic capabilities of these imaging modalities were compared. RNFL parameters evaluated included superior average （Savg-GDx）, inferior average （lavg-GDx）, temporal-superior-nasal- inferior-temporal （TSNIT） average, and nerve fiber indicator （NFI） on GDxVCC and superior average （Savg-OCT）, inferior average （lavg-OCT）, nasal average （Navg-OCT）, temporal average （Tavg-OCT）, and average thickness （AvgThick-OCT） on OCT （fast RNFL scan）. Visual field testing was performed and defects were evaluated using mean defect （MD） and pattern standard deviation （PSD）. Results The RNFL parameters （P 〈0.05） significantly different between groups included Savg-GDx, lavg-GDx, TSNIT average, NFI, Savg-OCT, lavg-OCT, Tavg-OCT, and AvgThick-OCT. Significant correlations existed between TSNIT average and AvgThick-OCT （r=0.778）, TSNIT average and MD （r=0.749）, AvgThick-OCT and MD （r=0.647）, TSNIT average and PSD （r=-0.756）, and AvgThick-OCT and PSD （r=-0.784）. The area under the receiver operating characteristic curve （AUROC） values of TSNIT average, Savg-GDx, lavg-GDx, NFI, Savg-OCT, lavg-OCT, Navg-OCT, Tavg-OCT, and AvgThick-OCT were 0.947, 0.962, 0.973, 0.994, 0.909, 0.917, 0.511, 0.906, and 0.913, respectively. The NFI AUROC was the highest value. Conclusions RNFL thickness was significantly lower in all but the nasal quadrant in patients with POAG and HM, compared to patients with only HM. Measurements with OCT and GDxVCC were well-correlated, and both modalities detected RNFL thickness chanaes. However. GDxVCC was better than OCT in detectina POAG in HM Datients.

Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma

Background： Glaucoma is a major cause of irreversible blindness worldwide. There is evidence showing that a subset of the disease is genetically determined. In this study, we screened for mutations in chromosome lq-linked open-angle glaucoma （GLC1A） in a Chinese family with primary open-angle glaucoma （POAG）. Methods： A total of 23 members from five generations of a family were enrolled and underwent thorough ophthalmologic examinations. In addition, 200 unrelated healthy Chinese controls were also recruited as normal control. GLC1A gene was amplified by polymerase chain reaction, and DNA sequencing was performed to screen for mutations. Results： Six members were diagnosed as POAG, with severe clinical manifestations, and history of high intraocular pressures. The mean age of disease onset was 26.3 years. However, the others were asymptomatic. In six affected and three asymptomatic members, gene sequencing revealed a mutation c.C1456T in exon 3 of myocilin gene （MYOC）. Furthermore, we also identified a novel mutation c.G322A in beta- 1,4-galactosyltransferase 3 （B4GALT3） gene in all six affected and three asymptomatic members, which was not reported previously in POAG patients. The two newly identified variants were absent in other family members as well as controls. Conclusion： The mutations c.1456C〈T （p.L486F） in MYOC and c.322G〈A （p.V1081） in B4GALT3 are likely responsible for the pathogenesis of POAG in this family.