Search

X-linked juvenile retinochisis (XLRS) is a rare inherited bilateral vitreoretinal dystrophy which usually affects males early in life. We describe the clinical findings, outcome, and challenges in treatment of three siblings diagnosed with XLRS. Three siblings with ages ranging from 5 to 9 years old presented with reduced visual acuity (VA) and posterior segment showing varying degrees of vitreous veil and spoke-wheel maculopathy. Optical coherence tomography (OCT) of the macula was performed, revealing retinoschisis in all eyes. All three siblings were diagnosed with XLRS and were started on topical brinzolamide twice daily. OCT was repeated at 6 months and 18 months. At 18 months, three eyes showed stable VA and three eyes showed improved in VA. One out of the three eyes with stable VA showed improved retinoschisis while the other two eyes showed worsening retinoschisis. On the other hand, one out of the three eyes with improved VA had improved retinoschisis and the other two had worsening retinoschisis. We demonstrated that the VA of patients with retinoschisis is not directly proportional to the degree of splitting of the neurosensory retina. Retinoschisis treatment is challenging, as there is no one proven effective treatment up to date.

Retinoblastoma is the most common primary intraocular malignancy in children.1 Incidence of retinoblastoma is constant worldwide at one case per 15000–20000 live births, which corresponds to about 9000 new cases every year.2,3 It usually occurs in children under five years of age and can lead to loss of vision, and in extreme cases, death.4 The common signs of its presentation are leukocoria, strabismus, secondary glaucoma, proptosis, anterior chamber inflammatory signs and spontaneous hyphaema.1 Prognosis for vision and survival has significantly improved due to timely diagnosis and improved treatment methods.5

Carotid-cavernous fistula (CCF) can be spontaneous or due to trauma. Due to its complication to the eye, diagnosis and intervention should not be delayed. We report a case of an elderly female who presented with left eye redness with gradual onset of protrusion over the same eye. She was suspected to have CCF with the clinical presentation. Nevertheless, she had a normal computed tomography angiogram of the brain. Later, she was scheduled for cerebral angiography and the diagnosis of CCF was confirmed. However, due to delay in diagnosis and treatment, the patient developed venous stasis retinopathy and neovascular glaucoma. Her vision remained poor despite aggressive systemic and ocular treatments. This case report is to emphasise the importance of clinical suspicion of a disease despite a normal imaging. This is to prevent irreversible blindness and other systemic complications.

Significance Ocular tilt reaction (OTR) is an abnormal eye-head postural reaction that consists of skew deviation, head tilt, and bilateral ocular torsion. Understanding of the pathway of the vestibulo-ocular reflex (VOR) is essential because this will help to localize the pathology. Purpose The aim of this study was to report a case of OTR with contralateral internuclear ophthalmoplegia (INO) and fifth and seventh cranial nerve palsies. Case report A 51-year-old gentleman with underlying diabetes mellitus presented with sudden onset of diplopia for 3 days. On examination, his visual acuity was 20/30 bilaterally without a relative afferent pupillary defect. He had a right OTR consisting of a right head tilt, a skew deviation with a left eye hypertropia, and bilateral ocular torsion (right excyclotorsion and left incyclotorsion) with nystagmus. He also had a left adduction deficit and right abduction nystagmus consistent with a left INO. Ocular examination revealed evidence of proliferative diabetic retinopathy bilaterally. Two days after the initial presentation, the patient developed left seventh and fifth cranial nerve palsies. MRI showed left pontine infarction and multiple chronic lacunar infarctions. There was an incidental finding of a vascular loop compression on cisternal portions of the left trigeminal, facial, and vestibulocochlear nerves. Antiplatelet treatment was started on top of a better diabetic control. The diplopia was gradually resolved with improved clinical signs. In this case, the left pontine infarction had likely affected the terminal decussated part of the vestibulocochlear nerve from the right VOR pathway, medial longitudinal fasciculus, and cranial nerve nuclei in the left pons. Conclusions The OTR can be ipsilateral to the lesion if the lesion is before the decussation of the VOR pathway in the pons, or it can be contralateral to the lesion if the lesion is after the decussation. In case of an OTR that is associated with contralateral INO and other contralateral cranial nerves palsy, a pathology in the pons that is contralateral to the OTR should be considered. Neuroimaging study can hence be targeted to identify the possible cause.

Aggressive retinopathy of prematurity (A-ROP), formerly known as aggressive posterior retinopathy of prematurity (APROP), occurs generally in extremely premature infants less than 28 weeks gestational age with extreme low birth weight of ≤1000g. We report a case of A-ROP occurring in a larger and less preterm infant. The possible risk factors that lead to the occurrence of A-ROP in this infant will be discussed. An infant born vaginally at 30 weeks gestational age weighing 1550g was diagnosed with A-ROP. Retinopathy of prematurity (ROP) screening was performed due to the presence of risk factors: prematurity, low birth weight, received supplemental oxygen, intraventricular hemorrhage and history of maternal chorioamnionitis. Following a single injection of intravitreal ranibizumab, significant regression of A-ROP was observed. A-ROP was unexpected in this infant and was believed to have developed as a result of receipt of supplemental oxygen, maternal chorioamnionitis, and Ureaplasma infection.

A carotid-cavernous fistula (CCF) is an arteriovenous fistula with an abnormal connection between the carotid artery and cavernous sinus that can be sight and life-threatening. The conjunctival injection is often the most prominent feature, and patients are commonly misdiagnosed for other ocular conditions leading to a delay in diagnosis and treatment. All three patients in this case series presented with persistent red eyes. They were all treated for conjunctivitis and only referred for further workup when other progressing ocular symptoms occurred. The diagnosis of CCF was confirmed with digital subtraction angiography and with successful endovascular embolization, their ocular symptoms resolved with preserved optic nerve function. A high index of suspicion in patients presenting with an atypical red eye is very crucial for timely diagnosis of CCF.

A healthy 25-year-old gentleman sustained a left eye perforating injury involving a metallic intraocular foreign body. Upon examination, his best-corrected visual acuity was 6/6 in the right eye and 1/60 in the left eye. There was a full thickness cornea-scleral laceration wound with uveal tissue prolapse at 7 o'clock. The pupil was peaked inferonasally. The anterior chamber was deep with cells grade 4+ and a hyphema level. The posterior segment could not be visualized due to a vitreous haemorrhage. The computed tomography scan revealed a high-density foreign body embedded in the posterior wall of the globe. He underwent primary toilet and suturing of the left eye cornea-scleral laceration, followed by pars plana vitrectomy with an endolaser and gas tamponade. However, the foreign body could not be identified intraoperatively. Post-operation, the left eye vision improved, achieving his premorbid best-corrected visual acuity of 6/6 by six months post-op. The intraocular foreign body was managed conservatively in view of the excellent visual acuity and the risk of further surgery. The patient has remained asymptomatic since then until his last follow-up at 30 months post-operation.

A 16-year-old boy with underlying bronchial asthma, vernal keratoconjunctivitis, and bilateral eye steroid-induced glaucoma presented with right eye itchiness, redness, and progressive painful blurring of vision for the past 3 weeks. His mother had been treating him with honey-based eye drops purchased from an unregistered source/traditional healer. On presentation his right visual acuity was counting fingers, the cornea was hazy, and a small central stromal abscess with a large endothelial plaque was seen in the anterior chamber. He was treated for right eye fungal keratitis and subsequently admitted for intensive treatment. He showed marked improvement and was discharged. His final vision on follow-up was 6/15.

Purpose The purpose of this study was to investigate the association between long-term intranasal steroid use and intraocular pressure (IOP) elevation. Patients and methods In total, 100 eyes from 50 patients on long-term intranasal steroids (>2 y) for allergic rhinitis and 90 eyes from 45 controls were included in this study. Patients on other forms of steroids and risk factors for glaucoma were excluded. IOP was measured and nonmydriatic stereoscopic optic disc photos were taken for each eye. The vertical cup-to-disc ratio and the status of the optic disc were evaluated. Results The mean IOP for intranasal steroids group was significantly higher (15.24±2.31 mm Hg) compared to the control group (13.91±1.86 mm Hg; P=0.000). However, there were no significant differences in the vertical cup-to-disc ratio and the status of glaucomatous optic disc changes between the groups. Conclusions Prolonged use of intranasal steroids cause statistical significant increase in IOP in patients with allergic rhinitis although no significant glaucomatous disc changes were seen. We suggest patients on long-term use of intranasal steroid have a yearly eye examination to be monitored for IOP elevation and those with additional risk factors for glaucoma is closely monitored for glaucoma.

The aim of this study is to report an unusual case of retinal racemose haemangioma (RRH) in a child resulting in optic neuropathy and its optical coherence tomography angiography (OCT-A) findings. This is a retrospective case report. For almost a year, a 13-year-old girl experienced gradual, painless, generalized blurred vision in her right eye. Visual acuity was 6/60 with a positive relative afferent pupillary defect (RAPD) in her right eye. The right-eye fundus showed enlarged and tortuous retinal vessels extending from the optic disc to all four quadrants, including the juxta foveal region. OCT analysis revealed distortion in the region of enlarged vessels with minimal retinal fluid while OCT-A of the macula area demonstrated dilated and tortuous vessels in the superficial layers of the retina. Right intra-orbital vascular channels surrounding the optic nerve with optic nerve atrophy and gliosis were detected on magnetic resonance imaging angiography/venography (MRA/MRV). The cerebral angiogram reported an abnormal tangle of small vessels within the right orbit that received supply from a dilated right ophthalmic artery indicating the presence of retro-orbital arteriovenous malformation (AVM). She was then referred to the neurosurgeon and a decision was made not to embolize or resect the dilated vessel as this might lead to occlusion of the ophthalmic artery and thus worsen her vision. RRH may present in the paediatric age group, and optic nerve atrophy is one of the disease manifestations. OCT-A is a less invasive diagnostic option compared to fundus fluorescein angiography (FFA) for diagnosis and monitoring of disease progression.

Takayasu arteritis is a chronic, progressive, autoimmune, granulomatous, medium-to-large vessel-panarteritis. It may cause chronic ocular ischaemia that may be refractory to treatment. We report a case of stage 4 Takayasu retinopathy resistant to conventional treatments. The patient was a 22-year-old woman who was diagnosed with Takayasu arteritis when she first presented with claudication while chewing and swallowing for one month. The patient was found to be hypertensive, with a significant systolic blood pressure difference between the arms and non-palpable bilateral brachial and radial artery pulses. Angiogram imaging revealed abnormalities involving the left subclavian, bilateral common carotid and left internal carotid arteries. She was referred to the ophthalmology clinic, as she experienced bilateral recurrent transient visual loss six months after the diagnosis. Dilated fundus examination showed bilateral stage 2 Takayasu retinopathy, evidenced by the presence of dilated retinal veins with microaneurysms. Her eyes progressed to stage 4 Takayasu retinopathy with proliferative retinopathy within one year of immunomodulatory therapy, largely due to poor compliance. No signs of regression were observed after completion of bilateral pan-retinal photocoagulation (PRP) with ongoing immunosuppressive treatment.

Orbital metastasis from renal cell carcinoma (RCC) is uncommon. Orbital tumor, as the first presentation of RCC, is rare as the majority of orbital metastases occur after a confirmed diagnosis of primary cancer. We report a case of the metastatic orbital tumor as the first manifestation of RCC, which presented with painless left eye proptosis for two months' duration, associated with blurring of vision and diplopia. Otherwise, the systemic review was unremarkable. Examination showed left eye non-axial proptosis with a pulsatile, multilobulated mass over the left supraorbital area extending to the left frontal region, limited ocular motility, and impaired optic nerve functions. CT of the orbit showed a mass arising from the left frontal and greater wing of the left sphenoid bone, with infiltration to the left lateral rectus, left superior oblique, and lacrimal gland. Further systemic investigation with CT thorax, abdomen, and pelvis revealed left RCC with para-aortic nodes, lungs, and bone metastases. The patient was planned for palliative care.

The hazy corneal donor-recipient interface after corneal transplant may cause difficulties when implanting the XEN gel stent via ab-interno approach. We aim to describe XEN gel stent implantation via ab-externo approach in refractory steroid-induced glaucoma after corneal lamellar keratoplasty. Under local anaesthesia, the XEN injector needle was inserted 7 mm behind the limbus with the bevel facing up, directly beneath the conjunctiva and advanced to the marked 2.5 mm scleral entry wound. The needle then pierced the sclera until the needle tip was just visible in the anterior chamber (AC). The slider was pushed until the tip of the XEN stent was seen in the AC. The needle was slowly withdrawn while still pushing the slider to complete stent deployment. Subconjunctival Mitomycin C 0.01% (30 µg/0.3 mL) was then injected posterior to the bleb. Three eyes of three patients with steroid-induced glaucoma after lamellar keratoplasty underwent XEN gel stent implantation via ab-externo approach placed at the superotemporal quadrant. Pre-operatively, all patients had uncontrolled IOP between 30-45 mmHg despite maximum medications and selective laser trabeculoplasty. After XEN gel stent implantation, IOP ranged between 10-17 mmHg with one or two topical antiglaucoma at 12 months. Complications include hypotony maculopathy, stent migration and hyphaema, all of which were successfully managed. Corneal graft remained clear at 12 months. XEN gel stent implantation via ab-externo approach is able to achieve good intraocular pressure (IOP) control without compromising cornea graft in patients with steroid-induced glaucoma after lamellar keratoplasty at 12 months.

It is reported that the prevalence of obesity and overweight among the teenagers is at alarming level. Obesity might develop into further health issues as they grow up into adults. Better lifestyle and modern technologies such as internet and smart phones have encouraged sedentary lifestyle. Lack of physical activities and uncontrolled food intake would be the main causes. The project aims at developing a portable internet-of-thing (IoT) instrument to monitor their physical activities. The instrument is designed to wrap around the arm and is a battery-powered microcontroller system, equipped with a global-positioning-system (GPS) sensor and a movement sensor (accelerometer). The system would synchronize to the internet via a smart phone. The location and body movements are recorded and could be monitored remotely by another user.

This case series aims to discuss cases of bilateral optic neuritis secondary to presumed ocular tuberculosis (TB) in two immunocompetent adults. Ocular TB has been associated with optic neuritis, but bilateral cases in immunocompetent individuals are rarely seen. We report a case series of two young healthy adults with bilateral painless optic neuritis as the presenting feature of ocular TB. Clinical examination, TB tests, and angiographic studies supported the diagnosis. All patients were started on anti-TB medication followed by oral prednisolone and had visual improvement a few weeks after treatment. As a conclusion, these cases highlight an atypical case of ocular TB presentation in immunocompetent individuals and thorough investigation is pertinent to preserve the visual function.

Purpose: To report a case series of seven eyes (six patients) with severe limbal stem cell failure who underwent cultivated oral mucosa epithelium transplantation (COMET) in preparation for corneal transplant surgery and assess the change in visual acuity postoperatively. Design: Case series. Methods: A retrospective analysis of an interventional case series of six patients with severe limbal stem cell deficiency who underwent COMET between 2012 and 2015 was performed. Six eyes had COMET followed by corneal transplant, and one eye had corneal transplant preceding COMET. The change in the visual acuity after operation was evaluated. Results: A total of six patients with seven eyes were studied. All of them had severe ocular surface disease with limbal stem cell deficiency (LSCD) secondary to chemical injury (five eyes), SJS (one eye), and severe ocular rosacea (one eye). Four eyes had improvements in visual acuity, two of which achieved best corrected visual acuity (BCVA) of 6/12. Conclusion: The use of COMET helps to optimize the ocular surface in severe LSCD for further corneal transplant surgeries. It has helped to improve the graft uptake and subsequent visual improvement, especially in chronic chemical burn cases.

A 37-year-old primigravida in her second trimester presented with bilateral painless progressive visual loss. Her vision was hand motion in both eyes. Both pupils were dilated with sluggish reaction to light. Both fundus appeared myopic with bilateral optic atrophy. Magnetic resonance imaging (MRI) of the brain revealed a suprasellar mass with optic chiasm compression and bilateral optic nerve atrophy. As the mass has compromised her vision, a semi-emergency craniotomy and excision of tumour was performed. Histopathological examination confirmed the diagnosis of low grade meningothelial meningioma. Both mother and foetus were well after the surgery. However, post-operatively her vision remained poor due to optic nerve atrophy.

Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye. A case history of a nine-year-old boy with PGK deficiency is reported. This patient was diagnosed with PGK deficiency by screening soon after birth, as his mother was a known carrier of a PGK gene mutation. A bone marrow transplant was performed at the age of 9 months. He had two episodes of encephalopathy following the transplant but no acute episode of haemolysis. From the age of 6 years, his vision has been deteriorating. Visual electrophysiology results identified retinal involvement involving both rod and cone dysfunction. The visual evoked potential was normal. Retinal dystrophy may be one of the clinical manifestations of phosphoglycerate kinase deficiency.

Phacolytic glaucoma normally presents with clinical features of eye pain and redness, anterior chamber inflammation, and increased intraocular pressure. This report is of a patient with phacolytic glaucoma, which presented as a total white hypopyon in a non-inflamed eye. Other possible causes of pseudohypopyon in this age group such as endogenous endophthalmitis or Masquerade syndrome were excluded before the patient underwent extracapsular cataract extraction with secondary posterior chamber intraocular lens implantation. She achieved satisfactory visual acuity postoperatively.