Ahmad Tajudin Liza-Sharmini

The first Malay database toward the ethnic-specific target molecular variation

BackgroundThe Malaysian Node of the Human Variome Project (MyHVP) is one of the eighteen official Human Variome Project (HVP) country-specific nodes. Since its inception in 9th October 2010, MyHVP has attracted the significant number of Malaysian clinicians and researchers to participate and contribute their data to this project. MyHVP also act as the center of coordination for genotypic and phenotypic variation studies of the Malaysian population. A specialized database was developed to store and manage the data based on genetic variations which also associated with health and disease of Malaysian ethnic groups. This ethnic-specific database is called the Malaysian Node of the Human Variome Project database (MyHVPDb).FindingsCurrently, MyHVPDb provides only information about the genetic variations and mutations found in the Malays. In the near future, it will expand for the other Malaysian ethnics as well. The data sets are specified based on diseases or genetic mutation types which have three main subcategories: Single Nucleotide Polymorphism (SNP), Copy Number Variation (CNV) followed by the mutations which code for the common diseases among Malaysians. MyHVPDb has been open to the local researchers, academicians and students through the registration at the portal of MyHVP (http://hvpmalaysia.kk.usm.my/mhgvc/index.php?id=register).ConclusionsThis database would be useful for clinicians and researchers who are interested in doing a study on genomics population and genetic diseases in order to obtain up-to-date and accurate information regarding the population-specific variations and also useful for those in countries with similar ethnic background.

Dengue related maculopathy and foveolitis

A 24 year-old Malay lady presented with high grade fever, myalgia, generalized rashes, severe headache and was positive for dengue serology test. Her lowest platelet count was 45 × 10(9) cells/L. She complained of sudden onset of painlessness, profound loss of vision bilaterally 7 days after the onset of fever. On examination, her right eye best corrected vision was 6/30 and left eye was 6/120. Her anterior segment examination was unremarkable. Funduscopy revealed there were multiple retinal haemorrhages found at posterior pole of both fundi and elevation at fovea area with subretinal fluid. Systemic examination revealed normal findings except for residual petechial rashes. She was managed conservatively. Her vision improved tremendously after 2 months. The retinal hemorrhages and foveal elevation showed sign of resolving. Ocular manifestations following dengue fever is rare. However, bilateral visual loss can occur if both fovea are involved.

Recurrent Bilateral Occipital Infarct with Cortical Blindness and Anton Syndrome

Bilateral cortical blindness and Anton syndrome, are most commonly caused by ischaemic stroke. In this condition, patients have loss of vision but deny their blindness despite objective evidence of visual loss. We report a case of a patient with multiple cardiovascular risk factors who developed recurrent bilateral occipital lobe infarct with Anton syndrome. A suspicion of this condition should be raised when the patient has denial of blindness in the presence of clinical and radiological evidence of occipital lobe injury. Management of this condition should focus on the underlying cause, in which our patient requires secondary stroke prevention and rehabilitation.

Concurrent hyphema and orbital apex syndrome following herpes zoster ophthalmicus in a middle aged lady

Highlights • Herpes zoster ophthalmicus is an uncommon clinical presentation.• Concurrent hyphema and orbital apex syndrome are rare clinical sequelae.• Hyphema is postulated due to auto immune vasculitis affecting iris vessel.• Orbital apex syndrome results from occlusive vasculitis affecting vasculature of optic nerve and extraocular muscles.• This incidence probably suggests that occlusive vasculitis occurs at more than one site in the affected dermatome.

Ocular tuberculosis in Hospital Universiti Sains Malaysia – A case series

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.

Optic disc topography in Malay patients with normal-tension glaucoma and primary open-angle glaucoma

Background There are limited data concerning the optic disc topography in normal-tension glaucoma (NTG) and primary open-angle glaucoma (POAG) patients living in Southeast Asian countries. This study aims to compare optic disc parameters in patients with NTG and POAG in Malaysia and to discuss the results in comparison with studies of NTG and POAG in other Asian countries. Methods This prospective cross-sectional study was performed in two hospitals with glaucoma service in Malaysia from 2010 to 2012. Seventy-seven patients of Malay ethnicity were enrolled in this study, including 32 NTG patients and 45 POAG patients. Using the Heidelberg Retinal Tomograph III, we measured optic disc area, cup area, rim area, cup volume, rim volume, cup-to-disc area ratio, mean cup depth, maximum cup depth, cup shape measure, height variation contour, mean retinal nerve fiber layer thickness, and retinal nerve fiber layer cross-sectional area. Results The eyes for NTG patients had significantly larger optic disc areas (2.65 [standard deviation, 0.41] vs 2.40 [standard deviation, 0.36] mm2, respectively; P=0.006) and cup areas (1.54 [standard deviation, 0.43] vs 1.32 [standard deviation, 0.40] mm2, respectively; P=0.027) compared with the eyes of POAG patients. Comparison of the other parameters between the two groups revealed no significant difference (P>0.050). The moderate and severe NTG patients showed significantly deeper cups and larger disc and cup areas when compared with the moderate and severe POAG patients (P<0.050). Conclusion The NTG patients in this study have notably larger optic disc and cup areas than the POAG patients. Our observations are consistent with those reported in studies of NTG and POAG patients in Korea. The deeper cups and larger disc and cup areas may serve as indicators of severity when comparing NTG with POAG. However, these findings require verification with IOP and visual field results.

Diffuse unilateral subacute neuroretinitis in a young boy: a case report

We report a case of diffuse unilateral subacute neuroretinitis in a young boy with no clinical visualization of nematode. The diagnosis was made based on clinical findings and detection of Toxocara immunoglobulin G by Western blot test. An 11-year-old Malay boy presented with progressive blurring of vision in the left eye for a duration of 1 year. It was associated with intermittent floaters. Visual acuity in the left eye was 6/45 and improved to 6/24 with pinhole. There was positive relative afferent pupillary defect, impaired color vision, and presence of red desaturation in the left eye. There were occasional cells in the anterior chamber with no conjunctiva injection. Posterior segment examination revealed mild-to-moderate vitritis and generalized pigmentary changes of the retina with attenuated vessels. The optic disk was slightly hyperemic with mild edema. There was presence of multiple, focal, gray-white subretinal lesions at the inferior part of the retina. Full blood picture results showed eosinophilia with detection of Toxocara immunoglobulin G by Western blot test. Investigations for other infective causes and connective tissue diseases were negative. The diagnosis of diffuse unilateral subacute neuroretinitis secondary to Toxocara was made based on clinical findings and laboratory results. He was treated with oral albendazole 400 mg daily for 5 days and oral prednisolone 1 mg/kg with tapering doses over 6 weeks. At 1 month follow-up, the inflammation had reduced, and multiple, focal, gray-white subretinal lesions were resolved; however there was no improvement of vision.

An improved rapid genotyping method for the study of beta-2 adrenergic receptor gene polymorphisms using single tube allele specific multiplex PCR

Background:  Seventeen single nucleotide polymorphisms (SNPs) have been identified so far, within the beta‐2 receptor (β2 AR) gene. The presence of so many SNPs within the β2 AR gene causes a problem, for those studying β2 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.

Clinical profile of ocular toxoplasmosis in the Universiti Sains Malaysia Hospital – 7-year review

Background. toxoplasmosis is caused by infection from a ubiquitous obligate intracellular parasite known as Toxoplasma gondii, which can infect both human and warm-blooded animals. this infection is commonly prevalent in developing country. Objectives. the purpose of this study is to report on a 7-year review of ocular toxoplasmosis patients that presented to the Universiti Sains malaysia hospital. Material and methods. this is a retrospective review of cases. the demographic data, ocular manifestations, clinical and laboratory profiles, treatment and disease outcome were collected from the patients’ medical records from January 2010 to December 2016. Results. a total of 16 patients with a diagnosis of ocular toxoplasmosis were identified. the mean age was 43.2, with standard deviation ± 15.4 years old. the percentage was 62.5% (10 patients) females and 37.5% (6 patients) male. the majority of patients were malay (93.4%, 15 patients). the most common classification of uveitis was panuveitis (56.3%, 9 patients), followed by posterior uveitis (25%, 4 patients), anterior uveitis (12.5%, 2 patients) and intermediate uveitis (6.2%, 1 patient). Keratic precipitate (75%, 12 patients) and vitritis (75%, 12 patients) were the most common ocular manifestation of ocular toxoplasmosis. a serological test for toxoplasmosis found only 1 patient with positive serum immunoglobulin m, while all patients displayed non-reactive serum immunoglobulin G (except 1 missing data). all ocular toxoplasmosis patients were treated with oral azithromycin 500 mg daily for 6 weeks, 81.3% (13 patients) were given an instillation of a steroid eye drop, while 25% (4 patients) required administration of an oral steroid. all of the patients responded well to treatment, but 25% (4 patients) suffered from recurrence, which required a second course of treatment. Conclusions. Ocular toxoplasmosis is a serious and depilating disease that can cause serious ocular morbidities. this review shows a diverse presentation of ocular toxoplasmosis as a result of toxoplasmosis infection.

Severe panuveitis in neuro-Behçet’s disease in Malaysia: a case series

Behçet’s disease (BD) is a multisystemic disease that is very rare in Malaysia. About 5% of patients develop central nervous system involvement, termed neuro-Behçet’s. Neuro-Behçet’s is one of the most serious causes of long-term morbidity and mortality. We report two cases of neuro-Behçet’s associated with uveitis (ocular BD) highlighting the clinical presentation, diagnostic measurement, and therapeutic management of these cases.