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2021| January-March | Volume 11 | Issue 1
Online since
February 10, 2021
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REVIEW ARTICLES
Neuro-ophthalmic manifestations of mitochondrial disorders and their management
Jane H Lock, Neha K Irani, Nancy J Newman
January-March 2021, 11(1):39-52
DOI
:10.4103/tjo.tjo_68_20
The visual system has high metabolic requirements and is therefore particularly vulnerable to mitochondrial dysfunction. The most commonly affected tissues include the extraocular muscles, photoreceptors, retinal pigment epithelium, optic nerve and visual cortex. Hence, the most common manifestations of mitochondrial disorders are progressive external ophthalmoplegia, macular pattern dystrophy, pigmentary retinopathy, optic neuropathy and retrochiasmal visual field loss. With the exception of Leber hereditary optic neuropathy and stroke-like episodes seen in mitochondrial encephalopathy, lactic acidosis and stroke-like episodes, the majority of neuro-ophthalmic manifestations have an insidious onset. As such, some patients may not recognize subtle progressive visual symptoms. When mitochondrial disorders are highly suspected, meticulous examination performed by an ophthalmologist with targeted ancillary testing can help confirm the diagnosis. Similarly, neuro-ophthalmic symptoms and signs may be the first indication of mitochondrial disease and should prompt systemic investigations for potentially life-threatening associations, such as cardiac conduction defects. Finally, the ophthalmologist can offer symptomatic treatments for some of the most disabling manifestations of these disorders.
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Atypical presentations of idiopathic intracranial hypertension
Benson S Chen, Nancy J Newman, Valerie Biousse
January-March 2021, 11(1):25-38
DOI
:10.4103/tjo.tjo_69_20
Idiopathic intracranial hypertension (IIH) is a disorder of unknown etiology that results in isolated raised intracranial pressure. Classic symptoms and signs of IIH include headache, papilledema, diplopia from sixth nerve palsy and divergence insufficiency, and pulsatile tinnitus. Atypical presentations include: (1) highly asymmetric or even unilateral papilledema, and IIH without papilledema; (2) ocular motor disturbances from third nerve palsy, fourth nerve palsy, internuclear ophthalmoplegia, diffuse ophthalmoplegia, and skew deviation; (3) olfactory dysfunction; (4) trigeminal nerve dysfunction; (5) facial nerve dysfunction; (6) hearing loss and vestibular dysfunction; (7) lower cranial nerve dysfunction including deviated uvula, torticollis, and tongue weakness; (8) spontaneous skull base cerebrospinal fluid leak; and (9) seizures. Although atypical findings should raise a red flag and prompt further investigation for an alternative etiology, clinicians should be familiar with these unusual presentations.
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Recent advances and future directions on the use of optical coherence tomography in neuro-ophthalmology
Cody Lo, Laurel N Vuong, Jonathan A Micieli
January-March 2021, 11(1):3-15
DOI
:10.4103/tjo.tjo_76_20
Optical coherence tomography (OCT) is a noninvasive imaging technique used to qualitatively and quantitatively analyze various layers of the retina. OCT of the retinal nerve fiber layer (RNFL) and ganglion cell–inner plexiform layer (GCIPL) is particularly useful in neuro-ophthalmology for the evaluation of patients with optic neuropathies and retrochiasmal visual pathway disorders. OCT allows for an objective quantification of edema and atrophy of the RNFL and GCIPL, which may be evident before obvious clinical signs and visual dysfunction develop. Enhanced depth imaging OCT allows for visualization of deep structures of the optic nerve and has emerged as the gold standard for the detection of optic disc drusen. In the evaluation of compressive optic neuropathies, OCT RNFL and GCIPL thicknesses have been established as the most important visual prognostic factor. There is increasing evidence that inclusion of OCT as part of the diagnostic criteria for multiple sclerosis (MS) increases its sensitivity. Moreover, OCT of the RNFL and GCIPL may be helpful in the early detection and monitoring the treatment of conditions such as MS and Alzheimer's disease. OCT is an important aspect of the neuro-ophthalmologic assessment and its use is likely to increase moving forward.
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Conservative treatments for acute nonarteritic central retinal artery occlusion: Do they work?
Rahul A Sharma, Nancy J Newman, Valerie Biousse
January-March 2021, 11(1):16-24
DOI
:10.4103/tjo.tjo_61_20
Acute central retinal arterial occlusion has a very poor visual prognosis. Unfortunately, there is a dearth of evidence to support the use of any of the so-called “conservative” treatment options for CRAO, and the use of thrombolytics remains controversial. In this review, we address a variety of these “conservative” pharmacologic treatments (pentoxifylline, isosorbide dinitrate, and acetazolamide) and nonpharmacologic approaches (carbogen, hyperbaric oxygen, ocular massage, anterior chamber paracentesis, laser embolectomy, and hemodilution) that have been proposed as potential treatments of this condition. We conclude that the available evidence for all treatments is insufficient to conclude that any treatment will influence the natural history of this disorder. Management of CRAO patients should instead focus on reducing the risk of subsequent ischemic events, including cerebral stroke. Certain patients may be considered for acute treatment with thrombolytics, although further research must clarify the efficacy, safety, and optimal use of these therapies.
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CASE REPORTS
Delayed diagnosis of cranial neuropathies from perineural spread of skin cancer
Daniel G Nelson, Samuel S Bidot, Gregory J Esper, Nancy J Newman, Valerie Biousse
January-March 2021, 11(1):86-88
DOI
:10.4103/tjo.tjo_62_20
Perineural spread (PNS) to cranial nerves (CNs) by cutaneous malignancies is difficult to diagnose given the indolent course and often late or absent findings on brain imaging. A 68-year-old white man with multiple cranial neuropathies secondary to PNS by squamous cell carcinoma had negative high-quality neuroimaging for 5.25 years. He first developed left facial numbness, followed 39 months later by a left CN VI palsy. Subsequent examinations over 2 years showed involvement of left seventh, right trigeminal V1–V3, and right sixth, and bilateral third nerve palsies. Repeat high-quality brain magnetic resonance imaging (MRIs) during this time showed no identifiable CNs abnormality. Full body positron emission tomography imaging and cerebrospinal fluid studies were normal. 5.25 years after initial sensory symptom onset, MRI showed new enhancement along the right mandibular branch of the trigeminal nerve with foramen ovale widening. Autopsy showed squamous cell carcinoma within both CNs sixth. A long interval to diagnosis of PNS is associated with high morbidity, emphasizing the need for earlier methods of detection when clinical suspicion is high.
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ORIGINAL ARTICLES
Outcome of vision screening by community health workers at immunization outlets in Nigeria to support access to early visual evaluation in children aged 0–2 years
Dupe S Ademola-Popoola, Victoria A Olatunji, Tokunbo S Obajolowo, Tanimola M Akande, Olugbenga A Mokuolu
January-March 2021, 11(1):77-85
DOI
:10.4103/tjo.tjo_39_20
PURPOSE:
Routine eye examination in early life is not the practice in most resource-limited countries. Delay in the presentation for eye problems is typical. Community health officers are often consulted by caregivers for all health problems during routine immunization and well-baby clinics in primary healthcare for children aged 0–2 years. This study evaluated the value and limitation of interview, Bruckner red reflex test, and instrument vision screener by noneye care middle-level staff of rural and urban well-baby immunization clinics, in early detection and referral for childhood eye disorders.
MATERIALS AND METHODS:
This was a cross-sectional study. Middle-level community health workers (CHWs) working at well-baby/ immunization clinics were trained to perform vision screening using interview of caregivers, red reflex eye examination with ophthalmoscope, and instrument vision screener (Welch Allyn SPOT™ Vision Screener) without mydriatic drugs during routine immunization of children aged 0–2 years. IRB approval was obtained.
RESULTS:
Over a 6-month period in 2017, the CHWs screened 5609 children. Overall, 628 (11.2%) patients were referred to the tertiary child eye care unit. Referred cases included cataract, glaucoma, congenital nasolacrimal duct obstruction, ophthalmia neonatorum, retinoblastoma, and significant refractive errors. Referral from the interview of mothers was enhanced if specific questions to elicit visual function were asked. Bruckner red reflex test was more effective than instrument vision screener in the detection of cataract and life-threatening diseases such as retinoblastoma. Instrument vision screener was preferred by parents and better at detecting amblyopic risk factors.
CONCLUSION:
Preschool vision screening during routine immunization by primary healthcare workers in resource-limited settings was effective. Whenever instrument vision screener does not give any recommendation during screening, consider vision- or life-threatening pathology and refer.
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LETTER TO THE EDITOR
Laurence-moon-biedl-bardet syndrome: An overview
Jamir Pitton Rissardo, Ana Leticia Fornari Caprara
January-March 2021, 11(1):108-109
DOI
:10.4103/tjo.tjo_2_20
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ORIGINAL ARTICLES
Clinical characteristics of morning glory disc anomaly in South India
Jayant Kumar, Olukorede O Adenuga, Kritika Singh, Ashish A Ahuja, Naresh B Kannan, Kim Ramasamy
January-March 2021, 11(1):57-63
DOI
:10.4103/tjo.tjo_52_20
PURPOSE:
Reports of morning glory disc anomaly (MGDA) in India have mostly been case reports. The aim of this study was to describe the demographic and clinical profile of patients with MGDA in South India.
MATERIALS AND METHODS:
A retrospective review of the medical records of patients with MGDA seen at a tertiary eye hospital in South India over a period of 8 years was carried out. The patients' demographic and clinical data were extracted from the case files and were entered into Epi Info reporting software version 7.2.3.0 and then analyzed.
RESULTS:
There were 51 eyes of 44 patients with MGDA comprised 25 (56.8%) males and 19 (43.2%) females. Seven (15.9%) patients had bilateral MGDA. The mean age for females was 5.8 years (standard deviation [SD]: 5.8) and for males, 11.2 years (SD: 12.1). This difference was not statistically significant with a
P
= 0.07. The most common ocular associations were strabismus, refractive error, and retinal detachment, whereas the most common systemic associations were cleft lip and cleft palate. Fifty-one percent of eyes were blind at presentation.
CONCLUSION:
Patients with MGDA in India tend to present late with poor visual prognosis. Early diagnosis and prompt treatment of blinding complications are crucial in reducing the risk of irreversible visual loss. Associated systemic abnormalities highlight the importance of a multidisciplinary approach in the management of patients with this condition.
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Rituximab for autoimmune retinopathy: Results of a Phase I/II clinical trial
Karen R Armbrust, Austin R Fox, Brett G Jeffrey, Patti Sherry, H Nida Sen
January-March 2021, 11(1):64-70
DOI
:10.4103/tjo.tjo_32_20
PURPOSE:
This prospective study evaluates whether rituximab is a safe and potentially effective treatment for nonparaneoplastic autoimmune retinopathy (npAIR).
MATERIALS AND METHODS:
Five npAIR patients were enrolled in a Phase I/II, prospective, nonrandomized, open-label, single-center study. All patients received a cycle of 1000 mg intravenous rituximab at weeks 0 and 2, with a second cycle of rituximab 6 to 9 months later. Clinical evaluation was performed at baseline, 6 and 12 weeks after each rituximab cycle, and then every 3 months for a total duration of 18 months. The primary outcome for this study was treatment success based on visual field and full-field electroretinography at 6 months. The secondary outcomes included treatment success at months 12 and 18, drug-related adverse events, changes in visual symptoms, and changes in quality of life.
RESULTS:
Two patients met criteria for treatment success: one based solely on electroretinography and the other based solely on visual field area, but treatment success was not sustained. Clinical response over the course of the 18-month study showed disease stabilization in three patients and treatment failure in two patients. There were no severe drug-related adverse events.
CONCLUSION:
This is the first clinical trial prospectively evaluating the effect of rituximab in npAIR and, although rituximab was well tolerated, there was no clear-cut clinical improvement conferred by B cell depletion with rituximab.
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CASE REPORTS
Optic disc edema due to peripapillary choroidal neovascularization
Naa Naamuah Tagoe, Rahul A Sharma, Valerie Biousse
January-March 2021, 11(1):93-96
DOI
:10.4103/tjo.tjo_77_20
A 35-year-old myopic woman developed right-eye optic disc edema with normal visual function. The presence of a subtle crescent-shaped peripapillary subretinal hemorrhage in addition to the disc edema raised concern for a peripapillary choroidal neovascular membrane, which was confirmed by enhanced depth optical coherence tomography.
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ORIGINAL ARTICLES
Clinical and demographic differences between idiopathic intracranial hypertension patients with mild and severe papilledema
Jonathan A Micieli, John P Gorham, Beau B Bruce, Nancy J Newman, Valerie Biousse, Jason H Peragallo
January-March 2021, 11(1):53-56
DOI
:10.4103/tjo.tjo_44_20
PURPOSE:
The purpose of this study was to evaluate whether papilledema severity is associated with specific demographic or clinical factors in patients with idiopathic intracranial hypertension (IIH).
MATERIALS AND METHODS:
A retrospective cohort study of consecutive IIH patients seen at one tertiary care institution between 1989 and March 31, 2017 was performed. IIH patients were classified as mild (Frisén Grade 1 or 2) or severe (Frisén Grade 4 or 5) based on grading of fundus photographs obtained at first presentation. Demographic and clinical variables including age, body mass index (BMI), gender, visual acuity, Humphrey visual field mean deviation, and cerebrospinal fluid (CSF) opening pressure were extracted from patient medical records for statistical analyses.
RESULTS:
A total of 239 patients were included in the study: 152 with mild papilledema and 87 with severe papilledema. There was no difference in age, race, BMI, or male gender between the mild and severe papilledema groups. CSF opening pressure was significantly higher in the severe papilledema group (41.89 cm of water vs. 33.69, 95% confidence interval [CI]: −10.79–−5.62,
P
< 0.0001). There was a significant difference in the Humphrey mean deviation (−6.38 dB compared to − 3.25 dB, 95% CI: −4.82–−1.44 dB,
P
< 0.001) and average logarithm of the minimum angle of resolution visual acuity at final follow-up (0.21 vs. 0.045, 95% CI: −0.299–−0.040,
P
= 0.01).
CONCLUSION:
Age, race, sex, and BMI were similar in IIH patients with mild versus severe papilledema, emphasizing the importance of a dilated fundus examination to reliably stratify patients. Patients with severe papilledema are at higher risk of visual acuity and visual field loss at final follow-up.
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EDITORIAL
A neuro-ophthalmology banquet: A selection of topics from authors worldwide
Nancy J Newman, Valerie Biousse
January-March 2021, 11(1):1-2
DOI
:10.4103/tjo.tjo_82_20
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CASE REPORTS
Homonymous thinning on macular optical coherence tomography indicating retrograde trans-synaptic degeneration from occipital infarctions
Benjamin I Meyer, Benson S Chen, Valerie Biousse, Nancy J Newman
January-March 2021, 11(1):89-92
DOI
:10.4103/tjo.tjo_74_20
Inner retinal thinning on optical coherence tomography (OCT) occurring through retrograde trans-synaptic degeneration is an increasingly recognized phenomenon, even in acquired retro-chiasmal brain lesions. We describe a man with stable visual field defects from multiple bilateral posterior circulation infarctions, who had ganglion cell complex (GCC) thinning on macular OCT that corresponded precisely with his visual field defects. In contrast to previous reports indicating that peripapillary retinal nerve fiber layer (RNFL) changes are important in detecting this phenomenon, the peripapillary RFNL thickness and the optic disc appearance of our patient were relatively unaffected. Our case contributes to the growing body of evidence that retrograde trans-synaptic degeneration can manifest as isolated macular OCT findings.
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ORIGINAL ARTICLES
Novel
BEST1
mutation in autosomal recessive bestrophinopathy in Japanese siblings
Rika Yamada, Rina Takagi, Sadahiko Iwamoto, Shoichi Shimada, Akihiro Kakehashi
January-March 2021, 11(1):71-76
DOI
:10.4103/tjo.tjo_37_20
PURPOSE:
Autosomal recessive bestrophinopathy (ARB) is a disease that results from the mutations in the
BEST1
gene. It is characterized by multifocal yellowish lipofuscin deposits, cystoid macular edema, and subretinal fluid. Among approximately 270
BEST1
mutations, only 40 that include both heterozygous and homozygous mutations are associated with ARB. However, very few ARB-related mutations have been reported in the Japanese population. Therefore, in this study, we aimed to identify
BEST1
mutations and describe the genotype–phenotype relationship in Japanese dizygotic twins presenting with ARB.
MATERIALS AND
METHODS:
We performed clinical examinations in Japanese dizygotic twin patients (male: 29 years) with ARB as well as whole-exome sequencing in seven family members of these twins.
RESULTS:
In this study, we have reported on a novel
BEST1
mutation, the p. Phe151Cys mutation, associated with ARB in Japanese dizygotic twins who had bi-allelic p. Ala160Pro mutations in
BEST1
. The clinical features observed were binocular abnormalities of the fundus, such as multifocal yellowish subretinal deposits, cystoid macular edema, and subretinal fluid. The full-field electroretinography results were subnormal.
CONCLUSION:
It was indicated that the novel
BEST1
mutations identified may be strongly correlated with binocular ARB. This study provides significant information of the genotype–phenotype association in Japanese ARB patients. Further, the genetic analysis that we performed was very useful for the differential diagnosis and might have implications in the development of future treatment modalities.
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CASE REPORTS
An unusual presentation of neurosarcoidosis: Concurrent optic perineuritis and optic neuritis
Mung Yan Lin, Qun Wang, Nancy J Newman, Michael Dattilo
January-March 2021, 11(1):104-107
DOI
:10.4103/tjo.tjo_84_20
Neurosarcoidosis is a rare complication of sarcoidosis and typically presents as acute cranial neuropathies. Neurosarcoidosis can rarely cause an inflammatory optic neuropathy, resembles an optic neuritis and even more rarely can cause an optic perineuritis. Although concomitant optic neuritis and optic perineuritis have been reported in other inflammatory conditions, such as myelin oligodendrocyte antibody-associated disease, spatially-distinct optic neuritis, and optic perineuritis has not been previously described in neurosarcoidosis. Here, we present a case of spatially-distinct concomitant optic neuritis and optic perineuritis from neurosarcoidosis in a 51-year-old man initially suspected to harbor metastatic disease based on imaging findings.
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Binasal visual field defects caused by temporal posterior subcapsular cataracts
Kelsey Moody Mileski, Valerie Biousse, Nancy J Newman
January-March 2021, 11(1):101-103
DOI
:10.4103/tjo.tjo_83_20
A 55-year-old female presented with binasal visual field defects and normal neuro-ophthalmic examination. Slit-lamp examination demonstrated posterior subcapsular cataracts that were located temporally in the visual axis. Due to the location of the nodal point in the eye, her visual field defect was contralateral to the opacity. Her visual field defects resolved after cataract surgery.
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Optic nerve head plasmacytoma as a manifestation of multiple myeloma
Kaitlin P Sandor, Jonathan A Micieli, Jason H Peragallo
January-March 2021, 11(1):97-100
DOI
:10.4103/tjo.tjo_81_20
Extramedullary disease in multiple myeloma is uncommon and associated with a poorer prognosis. Extramedullary disease involving the orbit is even more unusual, with optic nerve involvement being rare. We describe an optic nerve head plasmacytoma in a 45-year-old female in the setting of systemic relapsed, refractory IgA kappa multiple myeloma. The case highlights the importance of keeping extramedullary disease spread in the differential for vision loss in a patient with a history of multiple myeloma. In addition, it describes an unusual location for presentation of extramedullary disease, the optic nerve head, which has rarely been described.
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Online since 10
th
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