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47 XYY and morning glory syndrome--a unique association

Chew FL, Visvaraja S

J AAPOS, 2009 Aug;13(4):406-7.
PMID: 19487143 DOI: 10.1016/j.jaapos.2009.02.007

47 XYY syndrome is a sporadic condition in which the human male receives an extra Y chromosome. Few ocular associations have been documented. The authors report the first case of 47 XYY associated with morning glory syndrome, frontonasal meningoencephalocele, and midfacial defects.

Matched MeSH terms: Optic Disk/abnormalities*; Optic Disk/pathology
A Case of Polypoidal Choroidal Vasculopathy Associated With Optic Disc Drusen

Sarojini K, Ling KP, Teh WM, Ali H, Zunaina E

Cureus, 2020 Sep 07;12(9):e10297.
PMID: 33047087 DOI: 10.7759/cureus.10297

We report a case of optic disc drusen (ODD) associated with peripapillary polypoidal choroidal vasculopathy (PCV). A 62-year-old Malay lady presented with both eye ODD and the left eye associated with peripapillary subretinal hemorrhage. Ultrasound B-scan and red-free photography confirmed the optic nerve head drusen findings bilaterally. Optical coherence tomography (OCT) of the left eye showed sharply elevated peripapillary pigment epithelial detachment with subretinal fluid. The presence of peripapillary polyps with branching vascular network in indocyanine green angiography of the left eye further confirmed the diagnosis of PCV and excluded choroidal neovascularization (CNV) secondary to ODD. Subsequently, the patient was treated with a combination of verteporfin photodynamic therapy with three monthly intravitreal ranibizumab injections. Three months after the combined treatment, OCT showed completely resolved subretinal fluid. ODD can cause compression of the subretinal vessels at the optic disc that results in retinal ischemia and release of vascular endothelial growth factor, which may trigger the development of CNV or PCV. The rarity of this combination makes it interesting to study more cases of ODD with PCV. Importantly, a thorough evaluation in distinguishing the PCV from the CNV that mimics it is crucial for early detection and prompt intervention. In this case, indocyanine green angiography (ICGA) is the diagnostic method to differentiate the PCV from CNV secondary to ODD.

Matched MeSH terms: Optic Disk; Optic Disk Drusen
Fulltext A rare case of idiopathic intracranial hypertension in prepubertal age

Nurul Najieha Amir, Nor Fadhilah Mohamad, Mimiwati Zahari, Choo May May

Malaysian Journal of Medicine and Health Sciences, 2020;16(3):331-333.
MyJurnal

A 2-year-old girl who was under genetic follow up for developmental delay and dysmorphism was accidentally found to have bilateral optic disc swelling during screening examination. She showed response to optokinetic drum examination and the anterior segment examination was unremarkable. Optic disc swellings were seen in both eyes. Lumbar puncture shows high opening pressure of 50 cm H2O with unremarkable CSF analysis. MRI of brain was done and showed features in keeping with mild cerebral atrophy, with no evidence of hydrocephalus or space oc- cupying lesion. She was diagnosed with idiopathic intracranial hypertension and oral acetazolamide 125mg bd was commenced. However, papilloedema persist despite medical therapy. Ventriculoperitonel shunt was inserted to re- duce the csf pressure. This case report highlights the importance of considering idiopathic intracranial hypertension as a cause of optic disc swelling in pre-pubertal children because delay in diagnosis and treatment may permanently affect visual function especially in children.

Matched MeSH terms: Optic Disk
Fulltext Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Ashworth J, Flaherty M, Pitz S, Ramlee A

Acta Ophthalmol, 2015 Mar;93(2):e111-7.
PMID: 25688487 DOI: 10.1111/aos.12607

Purpose: The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders, characterized by the accumulation of glycosaminoglycans within multiple organ systems including the eye. This study aimed to determine the prevalence of glaucoma in patients with MPS, as well as the characteristics, diagnosis and management of patients with MPS and glaucoma.
Methods: A multicentre retrospective case-note review was carried out by ophthalmologists from four tertiary referral centres to identify patients with MPS who had been treated for glaucoma. Clinical ophthalmological data were collected using standardized data collection forms.
Results: Fourteen patients were identified (27 eyes) of 294 patients with MPS. The prevalence of glaucoma ranged from 2.1% to 12.5%. The median age at diagnosis of glaucoma was 8 years. Diagnostic evaluation of glaucoma was incomplete in many patients: intraocular pressure was documented in all eyes, but optic disc appearance was only assessed in 67%, central corneal thickness in 26%, visual fields in 19% and iridocorneal angle in 15%.
Conclusions: Patients with MPS need regular assessment for possible glaucoma including during childhood. Multiple factors contribute to the challenges of assessment, diagnosis and monitoring of glaucoma in these patients.
Keywords: Hunter; Hurler; Hurler-Scheie; Maroteaux-Lamy; Morquio; Scheie; glaucoma; mucopolysaccharidosis; prevalence.

Matched MeSH terms: Optic Disk/pathology
Assessment of optic disc parameters among healthy adult Malays by Heidelberg Retinal Tomograph II

Jusoh S, Shaharuddin B, Wan Hitam WH

Clin Exp Ophthalmol, 2011 Jan;39(1):15-22.
PMID: 20659136 DOI: 10.1111/j.1442-9071.2010.02385.x

This study aims to assess the optic disc characteristics in healthy adult Malays and to correlate them with age, gender and refractive errors.

Matched MeSH terms: Optic Disk/anatomy & histology*
Fulltext Assessment of the optic nerve head parameters using Heidelberg retinal tomography III in preterm children

Alshaarawi S, Shatriah I, Zunaina E, Wan Hitam WH

PLoS One, 2014;9(2):e88056.
PMID: 24551076 DOI: 10.1371/journal.pone.0088056

Variations in optic nerve head morphology and abnormal retinal vascular pattern have been described in preterm children using digital image analysis of fundus photograph, optical coherence tomograph and serial funduscopy. We aimed to compare the optic nerve head parameters in preterm and term Malay children using Heidelberg Retinal Tomograph III.

Matched MeSH terms: Optic Disk/anatomy & histology; Optic Disk/pathology*
Automated identification of exudates and optic disc based on inverse surface thresholding

Yazid H, Arof H, Isa HM

J Med Syst, 2012 Jun;36(3):1997-2004.
PMID: 21318328 DOI: 10.1007/s10916-011-9659-4

This paper presents a new approach to detect exudates and optic disc from color fundus images based on inverse surface thresholding. The strategy involves the applications of fuzzy c-means clustering, edge detection, otsu thresholding and inverse surface thresholding. The main advantage of the proposed approach is that it does not depend on manually selected parameters that are normally chosen to suit the tested databases. When applied to two sets of databases the proposed method outperforms a method based on watershed segmentation.

Matched MeSH terms: Optic Disk/physiopathology*
Automatic tracing of optic disc and exudates from color fundus images using fixed and variable thresholds

Reza AW, Eswaran C, Hati S

J Med Syst, 2009 Feb;33(1):73-80.
PMID: 19238899

The detection of bright objects such as optic disc (OD) and exudates in color fundus images is an important step in the diagnosis of eye diseases such as diabetic retinopathy and glaucoma. In this paper, a novel approach to automatically segment the OD and exudates is proposed. The proposed algorithm makes use of the green component of the image and preprocessing steps such as average filtering, contrast adjustment, and thresholding. The other processing techniques used are morphological opening, extended maxima operator, minima imposition, and watershed transformation. The proposed algorithm is evaluated using the test images of STARE and DRIVE databases with fixed and variable thresholds. The images drawn by human expert are taken as the reference images. The proposed method yields sensitivity values as high as 96.7%, which are better than the results reported in the literature.

Matched MeSH terms: Optic Disk/pathology*
Baseline Central Visual Field Defect as a Risk Factor For NTG Progression: A 5-Year Prospective Study

Raman P, Suliman NB, Zahari M, Mohamad NF, Kook MS, Ramli N

J Glaucoma, 2019 11;28(11):952-957.
PMID: 31688446 DOI: 10.1097/IJG.0000000000001359

PRECIS: This 5-year follow-up study on normal-tension glaucoma (NTG) patients demonstrated that those with baseline central visual field (VF) defect progress at a more increased rate compared with those with peripheral field defect.
PURPOSE: The purpose of this study was to investigate the clinical characteristics, including 24-hour ocular perfusion pressure and risk of progression in patients with baseline central VF defect, as compared with those with peripheral VF defect in NTG.
DESIGN: This was a prospective, longitudinal study.
METHODS: A total of 65 NTG patients who completed 5 years of follow-up were included in this study. All the enrolled patients underwent baseline 24-hour intraocular pressure and blood pressure monitoring via 2-hourly measurements in their habitual position and had ≥5 reliable VF tests during the 5-year follow-up. Patients were assigned to two groups on the basis of VF defect locations at baseline, the central 10 degrees, and the peripheral 10- to 24-degree area. Modified Anderson criteria were used to assess global VF progression over 5 years. Kaplan-Meier analyses were used to compare the elapsed time of confirmed VF progression in the two groups. Hazard ratios for the association between clinical risk factors and VF progression were obtained by using Cox proportional hazards models.
RESULTS: There were no significant differences between the patients with baseline central and peripheral VF defects in terms of demography, clinical, ocular and systemic hemodynamic factors. Eyes with baseline defects involving the central fields progressed faster (difference: βcentral=-0.78 dB/y, 95% confidence interval=-0.22 to -1.33, P=0.007) and have 3.56 times higher hazard of progressing (95% confidence interval=1.17-10.82, P=0.025) than those with only peripheral defects.
CONCLUSION: NTG patients with baseline central VF involvement are at increased risk of progression compared with those with peripheral VF defect.

Matched MeSH terms: Optic Disk/blood supply
Fulltext Bilateral idiopathic optic perineuritis in a young Malay woman: A case report

Ayesha Mohd Zain, Umi Kalthum Md Noh, Mushawiahti Mustapha, Norshamsiah Md. Din, Bastion, Mae Lynn Catherine

Neurology Asia, 2015;20(4):407-409.
MyJurnal

A 28-year-old Malay woman presented with severe loss of vision in both eyes associated with periocular pain on eye movement. She was completely blind at presentation and examination showed optic discs
swelling. Optic nerve imaging showed ‘doughnut sign’, characteristic of optic perineuritis. Steroid was
given over six months. Visual function improved gradually and was maintained at one year follow-up.
This case highlights the importance of differentiation between optic neuritis and optic perineuritis as
visual recovery depends on prolonged management with corticosteroid in optic perineuritis.

Matched MeSH terms: Optic Disk
Fulltext Case series of children with steroid-Induced glaucoma

Lam CS, Umi Kalthum MN, Norshamsiah MD, Bastion M

Malays Fam Physician, 2018;13(3):32-37.
PMID: 30800232

Steroid-induced glaucoma is the most serious complication of the injudicious use of steroids, particularly among children affected by allergic conjunctivitis. This condition is steroid-dependent, and children are commonly being prescribed topical anti-inflammatories, including topical steroids, by general practitioners. Furthermore, topical steroids are also available over the counter, and this availability contributes to overuse without proper monitoring by an ophthalmologist. We present a series of five cases illustrating the devastating effect of unmonitored, long-term use of steroids among children for vernal keratoconjunctivitis. The medications were prescribed initially by general ophthalmologists and were continually bought over the counter by parents. At the presentation to our center, these patients were already compromised visually, exhibiting glaucomatous optic disc changes and high intraocular pressure. The series highlights the optic nerve damage resulting in irreversible visual compromises among children on long-term, topical steroids and the importance of regular monitoring with a low threshold for ophthalmologist referral.

Matched MeSH terms: Optic Disk
Fulltext Case series of children with steroid-Induced glaucoma

Lam, C.S., Umi Kalthum, M.N., Norshamsiah, M.D., Bastion, M.L.C.

Malaysian Family Physician, 2018;13(3):32-37.
MyJurnal

Steroid-induced glaucoma is the most serious complication of the injudicious use of steroids,
particularly among children affected by allergic conjunctivitis. This condition is steroid-dependent,
and children are commonly being prescribed topical anti-inflammatories, including topical steroids,
by general practitioners. Furthermore, topical steroids are also available over the counter, and this
availability contributes to overuse without proper monitoring by an ophthalmologist. We present
a series of five cases illustrating the devastating effect of unmonitored, long-term use of steroids
among children for vernal keratoconjunctivitis. The medications were prescribed initially by general
ophthalmologists and were continually bought over the counter by parents. At the presentation to
our center, these patients were already compromised visually, exhibiting glaucomatous optic disc
changes and high intraocular pressure. The series highlights the optic nerve damage resulting in
irreversible visual compromises among children on long-term, topical steroids and the importance
of regular monitoring with a low threshold for ophthalmologist referral.

Matched MeSH terms: Optic Disk
Fulltext Central scotoma at near top of Mount Everest – a case report of bilateral high altitude retinopathy

Nazrina Hassan, Yong Meng Hsien, Wan Haslina Wan Abdul Halim, Norshamsiah Md Din

Malaysian Journal of Medicine and Health Sciences, 2019;15(106):94-94.
MyJurnal

Introduction: High altitude retinopathy (HAR) is part of high altitude illness (HAI) which includes acute mountain sickness, high altitude cerebral oedema and pulmonary oedema. We present a case of bilateral HAR with right eye central scotoma during Mount Everest expedition. Case description: A 37-year-old lady presented with decreased right eye (OD) vision and central scotoma during ascending to the top of Mount Everest at 5100m. She developed respiratory symptoms with shortness of breath at the same time and warranted her a rapid descend on day eight of her excursion. Ocular examination revealed visual acuity of 6/36 OD and 6/6 left eye (OS). Both pupils were normal without relative afferent pupillary defect. Anterior segment and intraocular pressure were unremarkable. Fundus examination revealed bilateral multiple retinal haemorrhages along vascular arcades, with macula involvement in the right eye only. Otherwise there was no sign of optic disc swelling, vascular sheathing or choroidal involvement. Optical coherence tomography (OCT) of the macula showed hyperreflectivity changes on the right fovea at the level of superficial nerve fiber layer. Diagnosis of bilateral HAR was made and treated conservatively. She was also diag-nosed with HAI with acute pulmonary oedema and pneumonia by the treating physician. The retinal haemorrhages started to resolve after two weeks with full recovery of vision in ten weeks. Conclusion: With increasing popularity of mountaineering, ophthalmologists should be prepared to recognise HAR as part of HAI. Visual impairment depends on the location and extent of the lesions. HAR is self-limiting with good prognosis but can be associated with poten-tially fatal conditions of HAI e.g. pulmonary oedema in our case.

Matched MeSH terms: Optic Disk
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.

Matched MeSH terms: Optic Disk
Comparison of B-scan sonographic measurements of optic cup with fundus photographic measurements

Ali NA, Subrayan V, Reddy SC, Othman F

J Clin Ultrasound, 2009 Jun;37(5):285-9.
PMID: 19280658 DOI: 10.1002/jcu.20570

To compare the measurements of the optic cup diameter with B-scan sonography with fundus photography in patients with clear ocular media and to propose a solution for the clinical problem of determining the cup-disc ratio in eyes with opaque ocular media.

Matched MeSH terms: Optic Disk/pathology; Optic Disk/ultrasonography*
Determinants of the optic cup to disc ratio in an Asian population: the Singapore Malay Eye Study (SiMES)

Amerasinghe N, Wong TY, Wong WL, Mitchell P, Shen SY, Loon SC, et al.

Arch. Ophthalmol., 2008 Aug;126(8):1101-8.
PMID: 18695105 DOI: 10.1001/archopht.126.8.1101

To describe the distribution and determinants of the optic cup to disc ratio (CDR) in Malay adults in Singapore.

Matched MeSH terms: Optic Disk/pathology*
Diagnosis of diabetic retinopathy: automatic extraction of optic disc and exudates from retinal images using marker-controlled watershed transformation

Reza AW, Eswaran C, Dimyati K

J Med Syst, 2011 Dec;35(6):1491-501.
PMID: 20703768 DOI: 10.1007/s10916-009-9426-y

Due to increasing number of diabetic retinopathy cases, ophthalmologists are experiencing serious problem to automatically extract the features from the retinal images. Optic disc (OD), exudates, and cotton wool spots are the main features of fundus images which are used for diagnosing eye diseases, such as diabetic retinopathy and glaucoma. In this paper, a new algorithm for the extraction of these bright objects from fundus images based on marker-controlled watershed segmentation is presented. The proposed algorithm makes use of average filtering and contrast adjustment as preprocessing steps. The concept of the markers is used to modify the gradient before the watershed transformation is applied. The performance of the proposed algorithm is evaluated using the test images of STARE and DRIVE databases. It is shown that the proposed method can yield an average sensitivity value of about 95%, which is comparable to those obtained by the known methods.

Matched MeSH terms: Optic Disk*
Difference in glaucoma progression between the first and second eye after consecutive bilateral glaucoma surgery in patients with bilateral uveitic glaucoma

Din NM, Talat L, Isa H, Tomkins-Netzer O, Barton K, Lightman S

Graefes Arch Clin Exp Ophthalmol, 2016 Dec;254(12):2439-2448.
PMID: 27495303

PURPOSE: To determine whether the second eyes (SE) of patients with bilateral uveitic glaucoma undergoing filtration surgery have more glaucomatous progression in terms of visual acuity, visual field (VF) and optic nerve changes compared to the first eyes (FE).
METHODS: This retrospective study analysed data of 60 eyes from 30 patients with bilateral uveitic glaucoma who had undergone glaucoma surgery in both eyes on separate occasions. Humphrey VF progression was assessed using the Progressor software.
RESULTS: The pre-operative IOP between the FE (43.1 ± 7.7 mmHg) and SE (40 ± 8.7 mmHg) was not statistically significant (p = 0.15). IOP reduction was greater in the FE (64 %) than SE (59.7 %) post-operatively, but the mean IOP at the final visit in the FE (12.3 ± 3.9 mmHg) and SE (14.5 ± 7 mmHg) was not statistically different (p = 0.2). There was no significant change in mean logMAR readings pre and post-operatively (0.45 ± 0.6 vs 0.37 ± 0.6, p = 0.4) or between the FE and SE. The number of SE with CDR > 0.7 increased by 23 % compared to the FE. From 23 available VFs, five SE (21.7 %) progressed at a median of five locations (range 1-11 points) with a mean local slope reduction of 1.74 ± 0.45 dB/year (range -2.39 to -1.26), whereas only one FE progressed. However, there was no significant difference between mean global rate of progression between the FE (-0.9 ± 1.6 dB/year) and SE (-0.76 ± 2.1 dB/year, p = 0.17) in the Humphrey VF.
CONCLUSION: In eyes with bilateral uveitic glaucoma requiring glaucoma surgery, the SEs had more progressed points on VF and glaucomatous disc progression compared to FEs at the final visit.

Matched MeSH terms: Optic Disk/pathology
Fulltext Diffuse unilateral subacute neuroretinitis in a young boy: a case report

Guan-Fook N, Hayati AA, Raja-Azmi MN, Liza-Sharmini AT, Wan-Hazabbah WH, Zunaina E

Clin Ophthalmol, 2012;6:487-90.
PMID: 22536041 DOI: 10.2147/OPTH.S29806

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.

Matched MeSH terms: Optic Disk
Evaluation of Optic Nerve Head Parameters, Retinal Nerve Fiber Layer Thickness, and Ocular Perfusion Pressure in Migraine Patients

Michael NDB, Hussein A, Abd Halim S, Ab Hamid SA

Cureus, 2019 May 04;11(5):e4599.
PMID: 31309023 DOI: 10.7759/cureus.4599

Background Neurovascular changes occur during the migraine is believed to cause alteration in cerebral and retinal circulation that possible result in damage to the brain and even retina or optic nerve. Retinal nerve fiber layer (RNFL) thickness measurement can be used as an index to assess ganglion cell and retinal nerve fiber damages. The aim of this study was to evaluate the optic nerve head (ONH) parameters, RNFL thickness, and ocular perfusion pressure (OPP) in migraine patients. Methods This was a cross-sectional study, conducted in Hospital Universiti Sains Malaysia, Kelantan from July 2016 to November 2018, involving patients with a confirmed diagnosis of migraine and controls. Ninety-four eyes of 47 migraine patients and 94 eyes of 47 healthy subjects were included in this study. Blood pressure and intraocular pressure were measured and OPP was calculated. ONH parameters and RNFL thickness were measured using optical coherence tomography (OCT) after pupillary dilatation. Statistical analysis was done using Statistical Package for the Social Science (SPSS Inc Version 24). Results With respect to all means values of ONH parameters, there was no statistically significant difference between migraine patients and controls. For RNFL, there were significant reductions in average and superior RNFL thickness on both eyes with adjustment of age and gender (P-value: right eye (RE) average = 0.027; RE superior = 0.034; left eye (LE) average = 0.037; LE superior = 0.031). In view of OPP, there was no significant difference between migraine patients and controls (P-value = 0.172). Weak correlations were found between the ONH parameters and RNFL thickness with OPP, respectively, in migraine patients. Conclusion This study showed no difference in ONH parameters between migraine patients and healthy subjects. There was significant thinning in average and superior RNFL for migraine patients. No difference found in OPP between both groups. ONH parameters and RNFL thickness had a weak correlation with OPP in migraine patients.

Matched MeSH terms: Optic Disk

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