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Fulltext Extrapulmonary sarcoidosis: unusual cause of epiphora

Ramlee N, Ramli N, Liza-Sharmini AT

Singapore Med J, 2007 Jun;48(6):e168-70.
PMID: 17538739

Sarcoidosis is a multisystemic granulomatous disease of unknown aetiology mainly affecting African-Americans, Scandinavians, and the Irish. However, individuals of other races and ethnicities are still not immune. The clinical presentations vary widely with most patients having some respiratory problems. Though extrapulmonary sarcoidosis is no longer rare, sarcoidosis involving the lacrimal sac is an infrequently-reported problem. We present a case of sarcoidosis involving the lacrimal sac in a 42-year-old Malay woman who presented with epiphora. She was successfully treated with steroids and dacryocystorhinostomy. There was no evidence of systemic involvement. It is suggested that in an unusual presentation of sarcoidosis, a thorough search should be made for localisation of other sites, lungs in particular, even in the absence of respiratory complaints.
rTES-30USM: cloning via assembly PCR, expression, and evaluation of usefulness in the detection of toxocariasis

Norhaida A, Suharni M, Liza Sharmini AT, Tuda J, Rahmah N

Ann Trop Med Parasitol, 2008 Mar;102(2):151-60.
PMID: 18318937 DOI: 10.1179/136485908X252250

Currently, the laboratory diagnosis of toxocariasis, caused by Toxocara canis or T. cati, mainly relies on serological tests. Unfortunately, however, the specificities of most of the commercial tests that are available for the serodiagnosis of this disease are not very high and this may cause problems, especially in tropical countries where co-infections with other helminths are common. In an effort to develop a serological assay with improved specificity for the detection of Toxocara infection, an IgG(4)-ELISA based on a recombinant version (rTES-30USM) of the 30-kDa Toxocara excretory-secretory antigen (TES-30) has recently been developed. To produce the antigen, the TES-30 gene was cloned via assembly PCR, subcloned into a His-tagged prokaryotic expression vector, and purified by affinity chromatography using Ni(2+)-nitrilotriacetic-acid (Ni-NTA) resin. The performance of the ELISA based on the recombinant antigen was then compared with that of commercial kit, based on an IgG-ELISA, for the serodiagnosis of toxocariasis (Toxocara IgG-ELISA; Cypress Diagnostics, Langdorp, Belgium). Both assays were used to test 338 serum samples, including 26 samples from probable cases of toxocariasis. Assuming that all the probable cases were true cases, the assay based on rTES-30USM demonstrated a sensitivity of 92.3% (24/26) and a specificity of 89.6% (103/115) whereas the commercial kit exhibited a sensitivity of 100% (26/26) but a specificity of only 55.7% (64/115). The high sensitivity and specificity exhibited by the new IgG(4)-ELISA should make the assay a good choice for use in tropical countries and any other area where potentially cross-reactive helminthic infections are common.
Fulltext Sequelae of neglected senile cataract

Azhany Y, Hemalatha C, Nani D, Rosediani M, Liza-Sharmini A

Malays Fam Physician, 2013;8(1):33-7.
PMID: 25606266 MyJurnal

Cataract is the most common cause of blindness in the world. An attack of phacolytic and phacomorphic glaucoma as a result of neglected cataract constitutes a medical emergency that must be addressed immediately. Ocular emergencies such as these is challenging for the surgeon with guarded or poor prognosis. We describe the presentation, management and prognosis of three cases of phacomorphic and phacolytic glaucoma. All three patients underwent aggressive management of intraocular pressure. Despite successful cataract operation with implantation of intraocular lens, there was only mild improvement of the vision. Optic nerve and pupil functions were permanently affected following the insult. Phacomorphic and phacolytic glaucoma present a very challenging problem to the surgeon with poor visual outcome. Public health education and awareness are important and health workers should encourage patients with cataract to seek early treatment for better prognosis.
Fulltext Leucocoria in a boy with Kawasaki disease: a diagnostic challenge

Che Mahiran CD, Alagaratnam J, Liza-Sharmini AT

Singapore Med J, 2009 Jul;50(7):e232-4.
PMID: 19644606

Retinoblastoma, the most common primary intraocular malignancy of childhood, usually presents in the first three years of life. Atypical presentation of retinoblastoma can masquerade as virtually any ocular or orbital pathology, which may lead to diagnostic dilemmas especially in the presence of other systemic diseases. We report a 20-month-old boy who was diagnosed with coronary aneurysm as a complication of Kawasaki disease, and presented with sudden left eye redness. His mother noticed the presence of white pupillary reflex three months earlier. Atypical acute ocular presentation secondary to Kawasaki disease was initially suspected, but the presence of multiple calcification and mild proptosis on imaging suggested characteristics of advanced retinoblastoma. Histopathological examination of the enucleated eye, which revealed a classical rosette pattern appearance, confirmed the diagnosis. Atypical presentations of retinoblastoma are usually associated with advanced disease. The presence of other systemic conditions further complicates the diagnosis. Early diagnosis is important to reduce the mortality and morbidity.
Fulltext Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma

Mimivati Z, Nurliza K, Marini M, Liza-Sharmini A

Mol Vis, 2014;20:714-23.
PMID: 24883016

PURPOSE:
To screen for mutations in the coding region of the myocilin (MYOC) gene in a large Malay family with juvenile-onset open angle glaucoma (JOAG).

METHODS:
A total of 122 family members were thoroughly examined and screened for JOAG. Venipuncture was conducted. Genomic DNA was extracted from peripheral blood leukocytes. The presence of a mutation and a polymorphism was ascertained with PCR amplification followed by the direct sequencing technique.

RESULTS:
Thirty-two of the 122 screened family members were identified to have JOAG (11 new cases and 21 known cases). An autosomal dominant inheritance pattern with incomplete penetrance was observed. A C→A substitution at position 1440 in exon 3 that changes asparagine (AAC) to lysine (AAA) was identified in affected family members except two probands (III:5 and IV:6). Six probands were identified as having the Asn480Lys mutation but have not developed the disease yet. An intronic polymorphism IVS2 730 +35 G>A was also identified. There was a significant association between Asn480Lys (p<0.001) and IVS2 730+35G>A (p<0.001) in the affected and unaffected probands in this family.

CONCLUSIONS:
The Asn480Lys mutation and the IVS2 730+35 G>A polymorphism increased susceptibility to JOAG in this large Malay pedigree. Identifying the MYOC mutations and polymorphisms is important for providing presymptomatic molecular diagnosis.
Fulltext Ocular findings in Malaysian children with Down syndrome

Liza-Sharmini AT, Azlan ZN, Zilfalil BA

Singapore Med J, 2006 Jan;47(1):14-9.
PMID: 16397715

Down syndrome was first described as Mongoloid children with European parentage. Although their facial features resemble Orientals or Asians, ocular findings have not been well-documented in Asians, especially Malaysians. Our aim was to identify the ocular findings of Malaysian children with Down syndrome.
Fulltext Anterior Segment Biometry in Primary Angle Closure Glaucoma Patients with Visual Field Progression: Comparison between Malays and Chinese

Neoh FP, Y A, Siti AA, Liza-Sharmini AT

J Curr Glaucoma Pract, 2023;17(1):3-8.
PMID: 37228307 DOI: 10.5005/jp-journals-10078-1391

OBJECTIVE: To compare anterior segment biometry parameters in progress and non-progress primary angle closure glaucoma (PACG) among Malay and Chinese patients.
MATERIALS AND METHODS: A cross-sectional study was conducted between November 2015 and December 2016 involving 75 patients with PACG (43 Malays and 32 Chinese) who were recruited from a single glaucoma center in Malaysia. Ocular examination included anterior segment biometry measurements on the selected eye. Axial length (AL) and anterior chamber depth (ACD) measurement was done using a noncontact partial coherence interferometer (IOL Master, Carl Zeiss, Germany). Anterior chamber angle (ACA) was measured by Anterior Segment-OCT (Spectralis Heidelberg, Germany). Humphrey visual field (HVF) 24-2 analysis of the same eye was conducted and compared with the HVF when diagnosis was made. Progression of PACG patients was assessed according to the Hodapp, Parrish and Anderson's (HPA) classification, they were then divided into progress and non-progress groups. Comparison of anterior segment biometry parameters between Malay and Chinese PACG patients with and without progression was analyzed using independent T test. Multivariate ANOVA analysis was used to compare the anterior segment parameters between progress and non-progress PACG patients, with adjustment for age, gender, lens status, family history and presence of diabetes mellitus.
RESULTS: Chinese PACG patients have significant shorter AL (22.18 mm ± 0.76) and narrower ACA (11.96° ± 6.00) compared to Malay PACG patients. Among the progress group, Chinese PACG patients have significant shorter AL, shallower ACD and narrower ACA compared to Malays. However, after controlling for confounding factors, there was significant difference in ACA between Malay and Chinese PACG. There was also no significant difference of ocular biometry measurement between Chinese and Malay patients in progress and non-progress group.
CONCLUSION: There was racial influence in ocular biometry measurement in PACG patients. Chinese have significant narrower ACA compared to Malays. Serial AS-OCT monitoring is important in management of PACG.
HOW TO CITE THIS ARTICLE: Neoh FP, Azhany Y, Siti-Azrin AH, et al. Anterior Segment Biometry in Primary Angle Closure Glaucoma Patients with Visual Field Progression: Comparison between Malays and Chinese. J Curr Glaucoma Pract 2023;17(1):3-8.
Fulltext Clinical presentation, severity and progression of primary angle closure in malays

Liza-Sharmini AT, Sharina YN, Dolaboladi AJ, Zaid NA, Azhany Y, Zunaina E

Med J Malaysia, 2014 Feb;69(1):21-6.
PMID: 24814624 MyJurnal

INTRODUCTION: There is limited knowledge on primary angle closure (PAC) in Malays. Understanding the clinical presentation and progression of PAC in Malays is important for prevention of blindness in Southeast Asia.

MATERIAL AND METHODS: A retrospective record review study was conducted on Malay patients seen in the eye clinic of two tertiary hospitals in Kelantan, Malaysia. Based on the available data, Malay patients re-diagnosed as primary angle closure suspect (PACS), primary angle closure (PAC), and primary angle closure glaucoma (PACG) based on the International Society Geographical Epidemiological classification. Clinical data was collected from initial presentation including the presence of acute primary angle closure until at least 5 years follow up. Progression was defined based on gonioscopic changes, vertical cup to disc ratio (VCDR), intraocular pressure (IOP) and Humphrey visual field (HVF) analysis. Progression and severity of PACG was defined based Hodapp-Parrish-Anderson classification on reliable HVF central 24-2 or 30-2 analysis.

RESULTS: A total of 100 patients (200 eyes) with at least 5 years follow up were included. 94 eyes (47%) presented with APAC. During initial presentation, 135 eyes (67.5%) were diagnosed with glaucomatous changes with 91 eyes already blind. After 5 years of follow up, 155 eyes (77.5%) progressed. There was 4 times risk of progression in eyes with PAC (p=0.071) and 16 times risk of progression in PACG (p=0.001). Absence of laser peripheral iridotomy was associated with 10 times the risk of progression.

CONCLUSION: Angle closure is common in Malays. Majority presented with optic neuropathy at the initial presentation and progressed further. Preventive measures including promoting public awareness among Malay population is important to prevent blindness.

Study site: Eye clinic, Hospital Universiti Sains Malaysia and Hospital
Raja Perempuan Zainab II
Fulltext Monsoon and primary acute angle closure in Malaysia

Ch'ng TW, Mosavi SA, Noor Azimah AA, Azlan NZ, Azhany Y, Liza-Sharmini AT

Med J Malaysia, 2013 Oct;68(5):410-4.
PMID: 24632871 MyJurnal

INTRODUCTION: Acute angle closure (AAC) without prompt treatment may lead to optic neuropathy. Environmental factor such as climate change may precipitate pupillary block, the possible mechanism of AAC.

OBJECTIVE: To determine the association of northeast monsoon and incidence of AAC in Malaysia.

MATERIALS AND METHODS: A retrospective study was conducted on AAC patients admitted to two main tertiary hospitals in Kelantan, Malaysia between January 2001 and December 2011. The cumulative number of rainy day, amount of rain, mean cloud cover and 24 hours mean humidity at the estimated day of attack were obtained from the Department of Meteorology, Malaysia.

RESULTS: A total 73 cases of AAC were admitted with mean duration of 4.1SD 2.0 days. More than half have previous history of possibility of AAC. There was higher incidence of AAC during the northeast monsoon (October to March). There was also significant correlation of number of rainy day (r=0.718, p<0.001), amount of rain (r=0.587, p<0.001), cloud cover (r=0.637, p<0.001), mean daily global radiation (r=- 0.596, P<0.001), 24 hours mean temperature (r=-0.298, p=0.015) and 24 hours mean humidity (r=0.508, p<0.001) with cumulative number of admission for AAC for 12 calendar months.

CONCLUSION: Higher incidence of AAC during northeast monsoon suggested the effect of climate as the potential risk factor. Prompt treatment to arrest pupillary block and reduction of the intraocular pressure is important to prevent potential glaucomatous damage. Public awareness of AAC and accessibility to treatment should be part of preparation to face the effect of northeast monsoon.
An improved rapid genotyping method for the study of beta-2 adrenergic receptor gene polymorphisms using single tube allele specific multiplex PCR

Zilfalil BA, Hoh BP, Nizam MZ, Liza-Sharmini AT, Teh LK, Ismail R

J Clin Pharm Ther, 2006 Dec;31(6):637-40.
PMID: 17176369

Seventeen single nucleotide polymorphisms (SNPs) have been identified so far, within the beta-2 receptor (beta(2) AR) gene. The presence of so many SNPs within the beta(2) AR gene causes a problem, for those studying beta(2) AR pharmacogenetics, in relation to which SNPs to choose. Most of the work has focused on the three common SNPs within the coding block (alleles 16, 27 and 164) and the techniques developed have been for these three functionally important alleles.
Fulltext Clinical presentation, severity and progression of primary angle closure in malay and chinese patients

Liza-Sharmini AT, Ng GF, Nor-Sharina Y, Khairil Anuar MI, Nik Azlan Z, Azhany Y

Med J Malaysia, 2014 Dec;69(6):245-51.
PMID: 25934953 MyJurnal

OBJECTIVE: To compare the clinical presentation, severity and progression of primary angle closure between Chinese and Malays residing in Malaysia.

METHODS: A comparative retrospective record review study was conducted involving one hundred (200 eyes) Malay and fifty eight (116 eyes) Chinese patients. They were selected from medical records of Hospital Universiti Sains Malaysia, Kelantan and Hospital Pulau Pinang, Penang, Malaysia. The selected patients were re-diagnosed based on the International Society of Geographical and Epidemiological classification. The clinical data on presentation including the presence of systemic diseases were documented. Progression of the disease was based on available reliable visual fields and optic disc changes of patients who have been on follow-up for at least five years.

RESULTS: Malay patients presented at older age (61.4 years SD 8.4) compared to Chinese (60.6 years SD 8.3). There was significant higher baseline Intraocular Pressure (IOP) among Malays (34.7 SD 18.5mmHg) compared to Chinese (30.3 SD 16.7mmHg) (p=0.032). The Chinese patients presented with significantly better visual acuity (p<0.001) and less advanced cup to disc changes (p=0.001) compared to Malays. Malay patients progressed faster than the Chinese. Majority progressed within 1 year of diagnosis. Malays without laser peripheral iridotomy (LPI) have a 4 fold (95% CI 1.4, 10.9) risk of progression. Higher baseline IOP, more advanced visual field defect and absence of LPI was identified as significant predictors associated with progression.

CONCLUSION: The Malays presented with more advanced angle closure glaucoma as compared to the Chinese in Malaysia. Aggressive disease progression was observed in Malays with the onset of optic neuropathy. Effective public awareness and aggressive management is important to prevent blindness in the Malaysian population.
Microvascular endothelial function and severity of primary open angle glaucoma

Bukhari SM, Kiu KY, Thambiraja R, Sulong S, Rasool AH, Liza-Sharmini AT

Eye (Lond), 2016 Dec;30(12):1579-1587.
PMID: 27540832 DOI: 10.1038/eye.2016.185

PurposeThe role of microvascular endothelial dysfunction on severity of primary open angle glaucoma (POAG) was investigated in this study.Patients and methodsA prospective cohort study was conducted. One hundred and fourteen ethnically Malay patients (114 eyes) with POAG treated at the eye clinic of Hospital University Sains Malaysia between April 2012 and December 2014 were recruited. Patients aged between 40 and 80 years with two consecutive reliable and reproducible Humphrey visual field 24-2 analyses were selected. Patients who were diagnosed with any other type of glaucoma, previous glaucoma-filtering surgery, or other surgeries except uncomplicated cataract and pterygium surgery were excluded. Humphrey visual field analysis 24-2 was used to stratify the severity of glaucoma using Advanced Glaucoma Intervention Study (AGIS) score at the time of recruitment. Microvascular endothelial function was assessed using Laser Doppler fluximetry and iontophoresis. Iontophoresis process with acetylcholine (ACh) and sodium nitroprusside (SNP) was used to measure microvascular endothelium-dependent and -independent vasodilatation, respectively.ResultsBased on the AGIS score, 55 patients showed mild glaucoma, with 29 moderate and 30 severe. There was statistically significant difference in microvascular endothelial function (ACh% and AChmax) between mild and moderate POAG cases (P=0.023) and between mild and severe POAG cases (P<0.001). There was negative correlation between microvascular endothelial function and severity of POAG (r=-0.457, P<0.001).ConclusionMicrovascular endothelial dysfunction may have a role in influencing the severity of POAG in Malay patients.

Study site: Eye clinic Hospital Universiti Sains Malaysia (HUSM)
Fulltext Ocular Perfusion Pressure and Severity of Glaucoma: Is There a Link?

Ch'ng TW, Chua CY, Ummi Kalsom MA, Azhany Y, Gong V, Rasool A, et al.

J Curr Glaucoma Pract, 2021 11 2;15(2):78-85.
PMID: 34720497 DOI: 10.5005/jp-journals-10078-1305

Aim and objective: To establish the association between 12-month inter-visits ocular perfusion pressure (OPP) and severity of glaucoma.
Materials and methods: A total of 164 eyes (60 primary open-angle glaucoma, 52 normal-tension glaucoma, and 52 primary angle-closure glaucoma) of 164 patients were analyzed in this prospective cohort study. Patients who demonstrated good compliance to treatment were recruited. The severity of glaucoma was stratified according to the Advanced Glaucoma Intervention Study (AGIS) score based on reliable and reproducible visual field analysis at baseline. OPP was obtained at baseline and a 3-monthly follow-up visit over a 12-month duration. The pattern and fluctuation of mean OPP were studied. Repetitive measure ANOVA and one-way ANOVA were used for statistical analysis.
Results: The inter-visits mean OPP (p = 0.010), systolic OPP (p = 0.020), diastolic OPP (p = 0.010), systolic blood pressure (p = 0.040), and diastolic blood pressure (p = 0.006) showed significant difference with severity of glaucoma. There was no significant difference between mean inter-visits intraocular pressure (IOP) and severity of glaucoma (p = 0.410). The end-stage glaucoma group had the lowest mean OPP and widest inter-visit mean OPP fluctuation. Early and mild glaucoma patients demonstrated higher mean OPP compared with moderate, severe, and end-stage glaucoma.
Conclusion: There is a significant association between OPP and the severity of glaucoma. Balancing blood pressure and IOP is important in optimizing adequate perfusion and prevent further damage to the optic nerve head.
How to cite this article: Ch'ng TW, Chua CY, Ummi Kalsom MA, et al. Ocular Perfusion Pressure and Severity of Glaucoma: Is There a Link? J Curr Glaucoma Pract 2021;15(2):78-85.
Ocular tuberculosis in Hospital Universiti Sains Malaysia - A case series

Shahidatul-Adha M, Zunaina E, Liza-Sharmini AT, Wan-Hazabbah WH, Shatriah I, Mohtar I, et al.

Ann Med Surg (Lond), 2017 Dec;24:25-30.
PMID: 29062482 DOI: 10.1016/j.amsu.2017.10.003

INTRODUCTION: Ocular tuberculosis (TB) encompasses a broad spectrum of clinical manifestations affecting different structures of the eye. It is caused by Mycobacterium tuberculosis, a great ancient organism that induces various types of diseases and unfavorable outcomes if unrecognized and not well treated.
PURPOSE: To report the clinical profile of 34 ocular TB cases observed during 6 years period in Hospital Universiti Sains Malaysia (HUSM).
METHOD: A retrospective review of medical records from 34 patients diagnosed with ocular TB in HUSM from January 2011 until December 2016.
RESULTS: The mean age was 43 ± 14.6 years old. Both male and female affected in about 1:1 ratio. The majority of subjects were local Malays (91.2%). Risk factors included previous contact with pulmonary TB patients (38.2%), and patients with underlying diabetes mellitus (26.5%). Most patients showed normal chest radiography (79.4%). However they had positive Mantoux test (94.1%) and raised erythrocyte sedimentation rate (ESR) value (58.8%). Uveitis was the most common ocular manifestation of ocular TB (70.6%) while the rare ocular manifestations included optic perineuritis and optic neuritis, orbital apex syndrome, orbital cellulitis, sclerokeratitis, corneal ulcer and conjunctival abscess. All patients responded well to anti-TB treatment, but visual outcome was variable.
CONCLUSIONS: This review shows the diverse entity of ocular TB spectrum in an endemic area. Good clinical response to anti-tuberculous therapy supported the presumed diagnosis of ocular TB in majority of the cases.
Fulltext Microbial keratitis: aetiological diagnosis and clinical features in patients admitted to Hospital Universiti Sains Malaysia

Norina TJ, Raihan S, Bakiah S, Ezanee M, Liza-Sharmini AT, Wan Hazzabah WH

Singapore Med J, 2008 Jan;49(1):67-71.
PMID: 18204773

Corneal ulceration remains one of the major causes of blindness in developing countries, including Malaysia. Our objective is to determine the epidemiological characteristics, clinical features, risk factors and the aetiology of microbial keratitis in patients admitted to Hospital Universiti Sains Malaysia (HUSM).
Fulltext Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays

Zilfalil BA, Sarina S, Liza-Sharmini AT, Oldfield NJ, Stenhouse SA

Singapore Med J, 2006 Feb;47(2):129-33.
PMID: 16435054

Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays.
Fulltext ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma

Nongpiur ME, Khor CC, Jia H, Cornes BK, Chen LJ, Qiao C, et al.

PLoS Genet, 2014 Mar;10(3):e1004089.
PMID: 24603532 DOI: 10.1371/journal.pgen.1004089

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.
Fulltext A common variant near TGFBR3 is associated with primary open angle glaucoma

Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, et al.

Hum Mol Genet, 2015 Jul 01;24(13):3880-92.
PMID: 25861811 DOI: 10.1093/hmg/ddv128

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.
Fulltext Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Vithana EN, Khor CC, Qiao C, Nongpiur ME, George R, Chen LJ, et al.

Nat Genet, 2012 Oct;44(10):1142-1146.
PMID: 22922875 DOI: 10.1038/ng.2390

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.

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