Familial Primary Open Angle Glaucoma

Primary open-angle glaucoma (POAG), also known as chronic simple glaucoma, is usually an inherited disease. Inheritance is considered multifunctional and polygenic. Glaucoma is the second leading cause of irreversible blindness worldwide, of which POAG is the most common. First-degree relatives of POAG patients are at increased risk. A reasonable risk for siblings is four and twice the risk of the normal population for the offspring, although the number of surveys varies. This case series of eight family members with POAG illustrates the stealth nature of POAG and the devastating vision loss it can cause as it progresses; emphasizing regular and comprehensive eye examinations during its early stage.

Association between polymorphism of optic disc related genes and susceptibility to primary open angle glaucoma in Inner Mongolia / 中华实验眼科杂志

Objective To evaluate the association between polymorphism of the optic disc related genes and primary open angle glaucoma (POAG) in Inner Mongolia.Methods A retrospective study was adopted.Pathography on 108 POAG patients was collected from six hospitals in Hohhot,Baotou city from January,2014 to December,2016 as POAG group.At the same time,120 healthy persons were included as the control group.Fasting venous blood of 2 ml blood was collected by EDTA anticoagulant.Mass spectrometry was used to genotype the single nucleotide polymorphism (SNPs) of RFTN1 (rs690037),ATOH7 (rs7916697,rs3858145),CDC7 (rs1192415),CDKN2B (rs1063192) and SIX (rs10483727) in 108 patients with POAG and 120 normal controls.The association of gene polymorphism with POAG was analyzed by the x2 test and logistic regression analysis.The study protocol was approved by the Ethics Committee of Inner Mongolia Baogang Hospital,and written informed consent was obtained from each patient.Results The frequency of CDKN2B (rs1063192) G allele in the POAG group was significantly higher than that in the control group (27％ VS.17％,odds ratio[OR] =1.824,95％ confidence interval [CI]:1.163-2.861,P=0.008),whereas allele frequencies of the other 7 SNPs were not statistically different between the two groups (all at P＞ 0.05).Additive and dominant models of rs1063192 indicated that the individual with G allele was more likely to suffer from POAG,with a significant difference (P＜0.05),but A allele did not significantly reduce the risk of POAG (P＞0.05).There was no significant difference in the distribution of other SNPs genotypes between the POAG group and the control group (P＞0.05).Conclusions The polymorphism of CDKN2B (rs1063192) is associated with the susceptibility to POAG,and the minor G allele may increase the risk of POAG.

Retinal Nerve Fiber Layer Thickness Measured by Spectral Domain Optical Coherence Tomography in Healthy Koreans

PURPOSE: To determine normal retinal nerve fiber layer (RNFL) thickness by age and to investigate the relationships of the RNFL with clinical variables using spectral domain optical coherence tomography (SD-OCT) in healthy Koreans. METHODS: The peripapillary RNFL thicknesses were measured around the optic disc using consecutive circular B-scans with 3.5 mm diameter and automatically calculated using a SD-OCT. RESULTS: Three hundreds fifty-two eyes of 205 healthy subjects were included in the study and RNFL thickness were measured by SD-OCT. Overall average RNFL thickness was 100.2 ± 10.9 µm, and significantly and negatively correlated with age (r = −0.164, p = 0.002). The overall average RNFL thickness decrease per decade was 0.8 µm (95% confidence interval, −0.3 to −1.3, p = 0.019). Mean RNFL thickness of each quadrant was significantly correlated with axial length except in the superior quadrant. CONCLUSIONS: This study describes the normal RNFL thickness values of Koreans as determined by SD-OCT. Furthermore, age was found to be correlated with normal RNFL thickness, however age-related changes were not uniform across every region.

Analysis of Retinal Nerve Fibre Layer Changes in Cases of Phacomorphic Angle Closure Post Phacoemulsification

Introduction: To investigate the retinal nerve fibre layer (RNFL) changes after an acute attack of phacomorphic angle closure. Methods: This prospective study involved 25 cases of phacomorphic angle closure that underwent phacoemulsification and intraocular lens insertion after intraocular pressure lowering. Apart from visual acuity and intraocular pressure (IOP), RNFL thickness was measured by optical coherence tomography (OCT) at 3–6 months post attack. Result: All cases had mean phacomorphic duration of <10 days. Postoperatively, best correct Snellen visual acuity was 0.42±0.23 and IOP at 6 months was 13.92 ± 2.41 mmHg. There was no difference RNFL between the attack and contralateral eye at 3 months post attack (both
p = 0.102). At 6 months post attack, there was significant thinning in the average (p <0.001), superior (p =<0.001), and inferior (p = 0.001) RNFL. Patients with <5 days duration of phacomorphic angle closure are likely to have reasonable postoperative vision. Conclusion: An acute episode of phacomorphic angle closure can trigger an accelerated RNFL thinning despite normal IOP and open angles, most noticeable in the superior and inferior quadrants, occurring between 3 and 6 months post attack. There is a need of long term follow up of such patients.

Identification of glaucomatous optic nerve head changes in Indian donor eyes without clinical history.

Purpose: The purpose of this study is to develop methods to identify glaucoma by examining the optic nerve head (ONH) of donor’s eyes when information on the preexisting ocular disease is unavailable. Materials and Methods: The ONH of the donor’s eyes was evaluated under a stereomicroscope for the cup‑disc ratio (CDR) and focal retinal rim thinning. The vertical diameter of the cup and disc was also measured using a precalibrated eyepiece micrometer. The suspect eyes were subjected to histological analysis to confirm the presence of specific glaucomatous changes. Results: A total of 202 eyes from 119 donors (68 males and 51 females, aged 42–96) were evaluated for glaucoma. Among them, 190 (94%) eyes showing vertical CDR in the of 0.0–0.6 range were considered nonglaucomatous and the remaining eyes with >0.6 as glaucoma suspect. The calculated mean CDR of the two groups (0.3 ± 0.16, 0.62 ± 0.27) was highly significant (P = 0.0003). Of 12 eyes suspected of glaucoma, 7 eyes from 5 donors showed specific glaucomatous changes by histology. The prevalence of glaucoma was 4.2% among the donors studied. Conclusions: A simple method of screening fresh donor eyes for selecting those with glaucoma features using CDR and histological analysis was reported. This method helps to obtain biologically active human ocular tissue for glaucoma research on gene expression, ultrastructural/proteome changes, and outflow mechanism.

Evaluation of subjects with a moderate cup to disc ratio using optical coherence tomography and Heidelberg retina tomograph 3: Impact of the disc area.

Aim: The aim was to evaluate subjects with a moderate cup to disc ratio using optical coherence tomograph (OCT) and Heidelberg retina tomograph (HRT) 3. Settings and Design: We included 80 patients with early glaucoma and 80 nonglaucomatous subjects with moderate cup/disc ratio (range of 0.5–0.8) to this cross‑sectional study. Subjects and Methods: We compared results of color‑coded algorithms of HRT 3 (Moorfields regression analysis [MRA] and Glaucoma probability score [GPS]) and OCT. All outputs are classified into three categories: Within normal limits (WNLs), borderline and outside normal limits (ONLs). Diagnostic accuracies of algorithms were determined using the highest sensitivity criteria. Results: The sensitivities of global MRA, GPS and OCT were 0.75, 0.925 and 0.725, respectively, in average disc area group and 0.85, 1.0 and 0.425, respectively, in large disc area group. The specificities of global MRA, GPS and OCT were 0.55, 0.15 and 0.85, respectively, in average disc area group and 0.425, 0.025 and 0.80, respectively, in large disc area group. Area under receiver operating characteristic curve (AUROC) of global MRA, GPS and OCT were 0.667, 0.617 and 0.792, respectively, in average disc area group and 0.746, 0.576 and 0.627, respectively, in large disc area group. AUROC of global MRA and OCT combination in the average and large disc area groups were 0.828 and 0.825, respectively. Conclusions: In contrast to GPS and OCT algorithms, diagnostic performance of MRA algorithm increased in large disc area group. Combining MRA and OCT algorithms produced satisfactory diagnostic performance in subjects with an average and large disc area.

Associations between Optic Cup-to-disc Ratio and Systemic Factors in the Healthy Korean Population

PURPOSE: To assess the relationships between optic cup-to-disc ratio (CDR) and age, sex, and other demographic and health characteristics in the healthy Korean population. METHODS: The study design was retrospective and population-based. A total of 28,377 subjects who participated in the Korea National Health and Nutrition Examination Survey between 2008 and 2011 were enrolled in this study. Participants underwent structured interviews as well as systemic and ophthalmic examinations. Patients with glaucoma who were diagnosed using the International Society of Geographical and Epidemiological Ophthalmology classification were excluded. Changes in vertical CDR were examined by age in relation to systemic variables on multiple regression analysis. RESULTS: The mean vertical CDR was 0.34 +/- 0.12. The vertical CDR increased with age from subjects in their 20s to those in their 80s (p < 0.001). The mean CDR in males was significantly higher than that of females (p < 0.001). On multiple regression analysis, the vertical CDR was positively associated with age (p < 0.001), male sex (p < 0.001), diastolic blood pressure (p = 0.009), and intraocular pressure (p < 0.001) but was negatively associated with body mass index (p < 0.001). CONCLUSIONS: Greater vertical CDR was related to age, male sex, higher diastolic blood pressure, higher intraocular pressure, and lower body mass index in healthy Koreans.

Espesor corneal central en el glaucoma crónico simple / Central corneal thickness in chronic simple glaucoma

Objetivo: determinar si el espesor corneal central es un factor a considerar en el manejo de los pacientes con glaucoma crónico simple. Métodos: se realizó un estudio de casos y controles: un grupo con 100 pacientes con glaucoma crónico simple y otro con igual número de pacientes (personas sanas que acudieron a consulta por síntomas de astenopía ocular). Resultados: la presión intraocular aumentó de manera proporcional con el espesor corneal central con diferencias significativas (p= 0,000) entre ambos grupos. Con el aumento de la relación copa-disco, disminuye el espesor corneal central (p= 0,04 y 0,008). Se encontraron cifras más bajas de espesor corneal central en el grupo de casos. Conclusiones: el espesor corneal central fue directamente proporcional a los niveles de presión intraocular e inversamente proporcional a la relación copa-disco, por lo que es un factor a considerar en el manejo del glaucoma crónico simple

Objective: determine whether central corneal thickness is a factor to be considered in the management of patients with chronic simple glaucoma. Methods: a case-control study was conducted with a group of 100 patients with chronic simple glaucoma and a group of 100 healthy persons who presented with symptoms of visual asthenopathy. Results: increase in intraocular pressure was proportional to central corneal thickness, with significant differences (p= 0.000) between the two groups. As the cup-disc ratio increases, central corneal thickness decreases (p= 0.04 and 0.008). Lower central corneal thickness values were found in the case group. Conclusions: central corneal thickness was directly proportional to intraocular pressure levels, and inversely proportional to cup-disc ratio. It is therefore a factor to be considered in the management of chronic simple glaucoma

Perfil clínico epidemiológico de pacientes com glaucoma encaminhados ao serviço de oftalmologia do Hospital Universitário daUniversidade Federal de Santa Catarina / Epidemiological profile of patients with glaucoma sent to HU-UFSC ophthalmology service

Introdução: o glaucoma é definido como uma doença multifatorial, caracterizada como neuropatia óptica crônica progressiva. Objetivo: traçar o perfil epidemiológico dos pacientes atendidos pela primeira vez no setor de glaucoma do serviço de oftalmologia do Hospital Universitário da Universidade Federal de Santa Catarina (HU ? UFSC), encaminhados com diagnóstico ou suspeita de glaucoma. Método: realizou-se um estudo retrospectivo e descritivo de 100 prontuários de pacientes atendidos pela primeira vez no setor de glaucoma do serviço de oftalmologia, no período de dezembro de 2010 a março de 2011. Foram analisados dados sociodemográficos e clínicos da primeira consulta dos indivíduos encaminhados a este setor, através da revisão dos seus prontuários. Resultados: a amostra era composta, em sua maioria, por indivíduos idosos, brancos e do sexo feminino. Treze por cento (13%) dos pacientes apresentavam história familiar para glaucoma. A acuidade visual menor ou igual a 20/200 foi encontrada em 8,0% dos pacientes quando analisado o melhor olho e em 35,0% quando analisado o pior olho. A relação escavação/disco óptico igual ou maior a 0,8 foi encontrada em 28 pacientes (14%) no olho direito e 26 pacientes (13%) no olho esquerdo. Tinham consciência do seu diagnóstico em um primeiro contato com o especialista 55% dos pacientes. Conclusão: apesar de observar-se um diagnóstico mais precoce para o glaucoma que em outros serviços, uma considerável parcela dos pacientes atendidos pela primeira vez no setor de glaucoma do serviço de oftalmologia do HU-UFSC, ainda, apresentou-se com a forma avançada da doença.

Background: glaucoma is defined as a multifactorial disease characterized as chronic progressive optic neuropathy. Objective: to describe the epidemiological and clinical profile of individuals presenting with glaucoma at the ophthalmology service of the University Hospital of the Federal University of Santa Catarina. Method: this is a retrospective study that shows comprehensive clinical and sociodemographic factors presented by patients on their first appointment at the Glaucoma Department, from December 2010 through March 2011. The data originated from a social and demographic analysis of our prerecorded files. Results: the sample consisted of elderly people, mostly Caucasian and female. Had a family history of glaucoma in 13% of patients. It was observed that 8% in best eye and 35% in worst eye of the studied eyes displayed visual acuity above or equal 20/200. The optic disk cup, above or equal 0,8, was found in 28 pacients (14%) in right eye and 26 pacients (13%) in left eye. Were conscious of their diagnosis in a first contact with specialist 55% of patients. Conclusions: although observed an earlier diagnosis of glaucoma as other services, a considerable number of patients seen for the first time in the area of glaucoma ophthalmology service of the HU-UFSC also presented with advanced disease.

Valid estimation of the optic disc:the case against using cup/disc ratio / 国际眼科杂志(Guoji Yanke Zazhi)

·Glaucoma is a kind of progressive disease characterized by distinctive defects of optic disc cupping and visual field loss associated with or without intraocular pressure elevated.The cup/disc ratio is the standard way to describe the optic disc in the past 40 years.But the fact is that there were cases in which glaucomatous visual field loss was associated with a small cup ,and cases in which visual field loss was not present even though the cup was large.The cup/disc ratio is less valid and reproducible than new methods.The Disc Damage Likelihood Scale (DDLS),which is based on the appearance of the neuroretinal rim of the optic disc,corrected for the disc diameter,may be a better system to evaluate the optic disc.

Cup-to-Disc Ratio, Intraocular Pressure, and Occlusion Site in Branch Retinal Vein Occlusion

PURPOSE: To investigate correlations among the cup-to-disc ratio (CDR), intraocular pressure (IOP), and the occlusion site in branch retinal vein occlusion (BRVO). METHODS: This prospective study involved 62 eyes with a diagnosis of BRVO. Fundus photography, fluorescein angiography, Goldmann applanation tonometry, and optical coherence tomography were performed. Correlations among CDR, IOP, and the occlusion site were analyzed. RESULTS: A negative correlation was found between the occlusion site and IOP (p<0.001, Pearson's correlation analysis) and between the occlusion site and CDR (p<0.001, Pearson's correlation analysis). However, the correlation between IOP and CDR was poor (p=0.092, Pearson's correlation analysis). CONCLUSIONS: BRVOs with an occlusion site near the optic disc are associated with raised IOP and CDR values. This study suggests that the occurrence of BRVO with an occlusion site near the optic disc indicates that the patient should be evaluated for glaucoma.

Comparison of Cup-to-disc Ratio Using the Superfield Lens and Optical Coherence Tomography

PURPOSE: The author compared the effect of the cup-to-disc ratio using the Volk Superfield lens and optical coherence tomography (OCT) to evaluate its usefulness in glaucoma diagnosis and follow-up. METHODS: One hundred ninety-seven eyes of 100 patients were enrolled: 34 normal, 75 glaucoma suspected, 43 normal tension glaucoma (NTG), 45 primary open angle glaucoma (POAG). Routine ophthalmic examinations, fundus examinations, and cup-to-disc ratio measurement using the Superfield lens after pupil dilatation, visual field test, OCT optic nerve head analysis, and OCT retinal nerve fiber layer analysis were performed. The author compared cup-to-disc ratio using the Superfield lens and OCT in normal, glaucoma suspected, normal tension glaucoma, and primary open angle glaucoma. RESULTS: Using the Superfield lens, the mean cup-to-disc ratio was 0.36+/-0.07 in normal eyes, 0.61+/-0.12 in suspected glaucoma, 0.75+/-0.11 in NTG, 0.70+/-0.17 in POAG. Using OCT, the mean cup-to-disc ratio was 0.58+/-0.13 in normal eyes, 0.69+/-0.12 in suspected glaucoma, 0.80+/-0.10 in NTG, and 0.76+/-0.15 in POAG. In all groups, cup-to-disc ratio using OCT were greater than using the Superfield lens and were statistically significant. CONCLUSIONS: Considering these differences in the clinical assessment of glaucoma, the combined use of the Superfield lens and OCT would be helpful in its diagnosis and follow-up.

Reproducibility Among Residents in Evaluating Cup-disc Ratio Using Computer-aided Planimetry

PURPOSE: To investigate the intra-observer agreement and inter-observer agreement among observers assessing optic disc cup-disc ratio of glaucoma patients. METHODS: Fifty stereoscopic optic disc photographs of patients with glaucoma were digitized and five ophthalmology residents drew optic disc and cup margin in a masked random fashion. It was performed twice on same photographs weekly under monoscopic and stereoscopic conditions. The agreement was estimated by Pearson correlation coefficient r. RESULTS: Intra-observer agreement for estimating linear cup-disc ratio (LCDR) under monoscopic (0.84) and stereoscopic conditions (0.86) were high and inter-observer agreement was also high under monoscopic (0.81) and stereoscopic conditions (0.83) showing more perfect agreement under stereoscopic condition. The observers estimated smaller cup-disc ratio when evaluating under stereoscopic condition than under monoscopic condition. CONCLUSIONS: Evaluating optic disc stereoscopically with computer-aided planimetry can be clinically useful when managing patients with glaucoma since it has a high reproducibility.

Optic Disc and EarIy Glaucomatous Visual Field Loss

In the early stages of glaucoma the disc changes prior to the visual field loss, so assessment of the optic disc is very important for the evalutation of the glaucoma patient. The most senstitive techniques for detecting changes of the optic disc require highly sophisticated instruments, such as computerized image analyzer, which are expensive and not generally available in clinical practice. Less expensive, but reliable, is color stereoscopic photography. The aim of this topic is to assess glaucomatous discs and look for the features of the optic disc that are commonly associated with early visual field defect. Forty-three eyes of 28 patients were included in this investigation. The criteria for inclusion were a cup/disc(C/D) ratio more than 0.4 by direct ophthalmoscopy, no visual field defect with Goldmann perimetry, and open anterior chamber angle. Each optic disc was photographed with a Canon fundus camera with Polaroid 600 Plus. Each photographic set was then examined stereoscopically for morphologic parameters: 1) comparison of vertical versus horizontal C/D ratio; 2) presence of nasal cupping; 3) presence of overpassing vessels; 4) presence of baring of circumlinear vessles; 5) presence of peripapillary atrophy; 6) ratio of the thinnest neuroretinal rim(NRR) width in the vertical sectors to the NRR width of the temporal sector. All subjects were examined for central visual field with the automated static perimeter, Humphrey program C 30-2 with STATPAC. The C/D ratio estimated by direct ophthalmoscopy consistently showed smaller C/D ratio than that by the stereophotographic method. Parameter with highest probability value to differentiate between the optic disc of early visual filed loss and the optic disc of normal subjects was "Ratio of the thinnest NRR width in the vertical sectors to the NRR width of the temporal sector

Optic disc and early glaucomatous visual field loss

In the early stages of glaucoma, the disc changes prior to visual field loss, so assessment of the optic disc is very important for the evaluation of the glaucoma patient. The aim of this study is to assess the glaucomatous disc and to look for the features of the optic disc that are commonly associated with early visual field loss. Forty-three eyes of 28 patients were included in this investigation. The criteria for inclusion were a cup/disc(C/D) ratio of more than 0.4 by direct ophthalmoscopy, no visual field defect with Goldmann perimetry, and open anterior chamber angle. Each optic disc was photographed with a Canon fundus camera with Polaroid 600 Plus film. Each photographic set was then examined stereoscopically for morphologic parameters: 1) comparison of vertical versus horizontal C/D ratio; 2) presence of nasal cupping; 3) presence of overpassing vessels; 4) presence of baring of circumlinear vessels; 5) presence of peripapillary atrophy; 6) ratio of the thinnest neuroretinal rim(NRR) width in the vertical sectors of the NRR width of the temporal sector. All subject's central visual fields were examined with an automated static perimeter, Humphrey program C30-2 with STATPAC. The C/D ratio estimated by direct ophthalmoscopy consistently showed a smaller C/D ratio than that found by the stereophotographic method. The parameter with the highest probability value to differentiate between the optic disc of the early visual field loss and the optic disc of normal subjects was "Ratio of the thinnest NRR width in the vertical sectors to the NRR width of the temporal sector < or = 85%". Although it has less resolving power than slide film, a stereo disc photograph with Polaroid film is a quick and simple method of recording changes, and the ratio of the thinnest NRR width in the vertical sectors to the temporal sector is a good predictive parameter for detection of early visual field loss.