Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness.

We describe the case of a 9-month-old boy presenting with isolated intermittent vertical eye movements most in keeping with upward saccadic pulses, a form of saccadic intrusions. Full-field electroretinogram was consistent with a generalized retinal dystrophy, and genetic testing revealed a hemizygous pathogenic mutation in the CACNA1F gene, confirming the diagnosis of incomplete congenital stationary night blindness (iCSNB). This case describes vertical saccadic pulses as the sole presenting sign of a retinal dystrophy.

Central retinal artery occlusion: a retrospective study of disease presentation, treatment, and outcomes.

OBJECTIVE: A central retinal artery occlusion (CRAO) represents a form of ocular stroke with poor visual prognosis. CRAO shares a common pathophysiology with cerebral ischemic stroke but presents unique diagnostic and management challenges leading to variability in clinical practice. This study aims to assess the presentation, treatment, and outcomes of CRAO at a tertiary care centre in Canada over 2 years and elucidate potential areas for improvement in the care of these patients. METHODS: Single-institution retrospective review including 27 patients diagnosed with CRAO from March 2018 to March 2020 in Edmonton, Alberta. RESULTS: Most patients with CRAO presented to eye care providers (14 of 27); others presented to the emergency department (10 of 27) or family physicians (2 of 27). Three patients (11.1%) presented within 4.5 hours of symptom onset. At presentation, 81% of patients had visual acuity of 20/400 or worse in the affected eye. No patients received thrombolysis. The majority of CRAO cases had a nonarteritic etiology (92.6%). All patients had at least one pre-existing vascular risk factor. Forty-eight percent of patients received escalated medical therapy. Ipsilateral carotid stenosis was identified in 5 patients (18.5%); 3 patients required carotid endarterectomy. Two patients were diagnosed with atrial fibrillation. Two patients experienced symptomatic cerebral ischemia within 6 weeks of CRAO. CONCLUSIONS: The majority of patients with CRAO presented to eye care providers, and few present within the potential window for thrombolysis of 4.5 hours, highlighting the need for public awareness strategies. Our cohort highlights the significant rate of systemic comorbidity that exists in these patients.

The sensitivity and specificity of retinal and choroidal folds to distinguish between mild papilloedema and pseudopapilledema.

PURPOSE: To determine if the presence or absence of retinal and choroidal folds on SD-OCT imaging can distinguish between mild papilloedema and pseudopapilledema. DESIGN: Cross-sectional cohort study METHODS: Subjects with optic disc elevation (Frisen grades 1 and 2 only) were eligible to be enrolled prospectively. Pseudopapilledema was defined as a lack of change in optic disc appearance between two visits <6 months apart, and papilloedema was defined as change in optic disc appearance between two visits <6 months apart determined by review of fundus photographs by a masked neuro-ophthalmologist. Three masked neuro-ophthalmologists independently reviewed en face and axial optical coherence tomography (OCT) images of the optic nerve of the study subjects for the presence or absence of retinal and choroidal folds. Concordance was determined when there was agreement between at least 2 of the 3 observers. RESULTS: Forty-five subjects (78 eyes) met inclusion criteria. There were 32 eyes with papilloedema and 46 eyes with pseudopapilledema. Choroidal and/or retinal folds were detected in 38% of eyes (12/32) with papilloedema and 19.6% of eyes (9/46) with pseudopapilledema. Post-hoc analyses eliminated six questionable cases of pseudopapilledema that had ancillary testing suggestive of elevated intracranial pressure and resulted in one remaining eye (2%) with more certain pseudopapilledema that was found to have folds. En face OCT imaging was more sensitive (71%) in detection of folds than axial OCT imaging (57%). CONCLUSIONS: Choroidal and/or retinal folds on OCT are commonly observed in patients with mild papilloedema and are uncommon in those with pseudopapilledema. The presence of folds on OCT in patients presenting with disc elevation suggests papilloedema.

Utility of Spectral-Domain Optical Coherence Tomography in Differentiating Papilledema From Pseudopapilledema: A Prospective Longitudinal Study.

BACKGROUND: Prospective and longitudinal studies assessing the utility of spectral-domain optical coherence tomography (SD-OCT) to differentiate papilledema from pseudopapilledema are lacking. We studied the sensitivity and specificity of baseline and longitudinal changes in SD-OCT parameters with 3D segmentation software to distinguish between papilledema and pseudopapilledema in a cohort of patients referred for evaluation of undiagnosed optic disc elevation. METHODS: Fifty-two adult patients with optic disc elevation were enrolled in a prospective longitudinal study. A diagnosis of papilledema was made when there was a change in the appearance of the optic disc elevation on fundus photographs as noted by an independent observer at or before 6 months. The degree of optic disc elevation was graded using the Frisen scale and patients with mild optic disc elevation (Frisen grades 1 and 2) were separately analyzed. SD-OCT parameters including peripapillary retinal nerve fiber layer (pRNFL), total retinal thickness (TRT), paracentral ganglion cell layer-inner plexiform layer (GCL-IPL) thickness, and optic nerve head volume (ONHV) at baseline and within 6 months of follow-up were measured. RESULTS: Twenty-seven (52%) patients were diagnosed with papilledema and 25 (48%) with pseudopapilledema. Among patients with mild optic disc elevation (Frisen grades 1 and 2), baseline pRNFL (110.1 µm vs 151.3 µm) and change in pRNFL (ΔpRNFL) (7.3 µm vs 52.3 µm) were greater among those with papilledema. Baseline and absolute changes in TRT and ONHV were also significantly higher among patients with papilledema. The mean GCL-IPL thickness was similar at baseline, but there was a small reduction in GCL-IPL thickness among patients with papilledema. Receiver operator curves (ROCs) were generated; ΔpRNFL (0.93), ΔTRT (0.94), and ΔONHV (0.95) had the highest area under the curve (AUC). CONCLUSIONS: The mean baseline and absolute changes in SD-OCT measurements (pRFNL, TRT, and ONHV) were significantly greater among patients with papilledema, and remained significantly greater when patients with mild optic disc elevation were separately analyzed. ROCs demonstrated that ΔpRNFL, ΔTRT, and ΔONHV have the highest AUC and are best able to differentiate between papilledema and pseudopapilledema.

Role of Ocular Ultrasonography to Distinguish Papilledema From Pseudopapilledema.

BACKGROUND: We prospectively evaluated the sensitivity and specificity of ocular ultrasonography (OUS) to distinguish papilledema from pseudopapilledema. METHODS: Forty-nine study participants, with optic disc elevation, underwent neuro-ophthalmic evaluation, OUS, fundus photography, and optical coherence tomography (OCT) of the optic nerve head at the initial and follow-up visits (≤6 months apart). Participants were classified as having papilledema if there was a change in optic nerve appearance on fundus photographs, as determined by a masked observer, between initial and follow-up visits ≤6 months apart. OUS was considered positive when the optic nerve sheath width was >3.3 mm and the 30° test was positive. Ocular ultrasonographic findings were correlated in patients who had papilledema vs patients who had pseudopapilledema. In a subanalysis, OUS findings were also correlated with change in peripapillary retinal nerve fiber layer thickness on OCT of the optic nerve head between initial and follow-up visits. RESULTS: OUS was 68% (17/25) sensitive for papilledema and 54% (13/24) specific for pseudopapilledema. When using OCT parameters to define papilledema, the sensitivity of OUS to diagnose papilledema decreased to 62%. Positive OUS correlated with elevated opening pressure on lumbar puncture and with signs of increased intracranial pressure on MRI. CONCLUSION: OUS alone was less sensitive in diagnosing papilledema than previously thought. Therefore, OUS may not be helpful in distinguishing between papilledema and pseudopapilledema.

Acute Unilateral Ptosis and Myositis Following the H1N1 Influenza Vaccine.

The authors present a rare case of sudden onset unilateral complete ptosis occurring hours after administration of the H1N1 influenza vaccine. A complete workup for autoimmune and neurological disease was negative. MRI of the orbits demonstrated unilateral orbital myositis involving the left superior rectus/levator complex, superior oblique, and medial rectus muscles. Ptosis resolved spontaneously over 2 months without intervention. An autoimmune mechanism may explain rare cases of orbital myositis following administration of the H1N1 influenza vaccination.A case of acute onset and spontaneous resolution of complete unilateral ptosis and orbital myositis post H1N1 influenza vaccination.

Management of a Large Congenital Hemangioma Obstructing Visual Axis: A Case Report and Review of Literature.

Congenital hemangiomas comprise a subset of vascular tumors with clinicopathologic features that are distinct from the more common infantile hemangioma. The authors present a patient with a large congenital hemangioma involving the forehead and brow which obstructed the visual axis and created significant risk for deprivational amblyopia. Management of the congenital hemangioma involved customized headgear to clear the visual axis and early vascular embolization of feeder vessels with the subsequent successful surgical resection at 23 days of life.A large amblyogenic congenital hemangioma required a multidisciplinary approach involving early vascular embolization of feeder vessels and subsequent surgical resection at 23 days of life.

Resolution of Papilledema Associated with Chiari I Malformation with Ventriculoperitoneal Shunting.

Chiari malformation type 1 (CMI) usually presents with cervical pain and suboccipital headache, among other symptoms. Patients with CMI describe symptoms that are clearly correlated with CMI for an average of 3.1 years before diagnosis. We present a case of a patient with bilateral papilledema and CMI but with no long-standing CMI symptoms. She was initially diagnosed with a concussion but developed unremitting intense occipital headaches 4 days later which prompted an evaluation for an alternative diagnosis. Treatment of this case was ventriculoperitoneal shunting, which may serve as an alternative to posterior fossa decompression under certain circumstances.

Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome.

This case highlights the management of orbital rhabdomyosarcoma in a child with Li Fraumeni syndrome (LFS). Treatment with chemotherapy and eventual orbital exenteration enabled margin-free control of the tumor. Radiation therapy was avoided to reduce the risk of inducing additional malignancy. Reactive orbital hyperostosis was observed postoperatively and was confirmed with surgical biopsy of the orbital roof. In this case, systemic surveillance imaging, which is necessary in patients with LFS, revealed an adrenal cortical carcinoma.

Retrospective, Multicenter Comparison of the Clinical Presentation of Patients Presenting With Diplopia From Giant Cell Arteritis vs Other Causes.

BACKGROUND: Although giant cell arteritis (GCA) is a well-known cause of transient and permanent vision loss, diplopia as a presenting symptom of this condition is uncommon. We compared symptoms and signs of patients presenting with diplopia from GCA to those from other causes. METHODS: This was a multicenter, retrospective study comparing the clinical characteristics of patients presenting with diplopia from GCA with age-matched controls. Demographic information, review of symptoms, ophthalmic examination, and laboratory data of biopsy-proven patients with GCA were compared with those of age-matched controls presenting with diplopia. RESULTS: A total of 27 patients presented with diplopia from GCA, 19 with constant diplopia, and 8 with transient diplopia. All patients with constant diplopia from GCA were matched with 67 control subjects who had diplopia from other etiologies. Patients with GCA were more likely to describe other accompanying visual symptoms (58% vs 25%, P = 0.008), a greater number of systemic GCA symptoms (3.5, GCA vs 0.6, controls, P < 0.001) such as headache (94% [17/18] vs 39% [23/67]; P < 0.001), jaw claudication (80% [12/15] vs 0% [0/36]; P < 0.001), and scalp tenderness (44% [7/16] vs 7% [3/43]; P < 0.001). Ocular ischemic lesions (26% vs 1%, P < 0.001) were also common in patients with diplopia from GCA. Inflammatory markers were elevated significantly in patients with GCA vs controls (erythrocyte sedimentation rate: 91% [10/11] vs 12% [3/25], P < 0.001; C-reactive protein: 89% [8/9] vs 11% [2/19], P < 0.001). CONCLUSIONS: GCA is a rare but serious cause of diplopia among older adults and must be differentiated from other more common benign etiologies. Our study suggests that most patients with diplopia from GCA have concerning systemic symptoms and/or elevated inflammatory markers that should trigger further work-up. Moreover, careful ophthalmoscopic examination should be performed to look for presence of ocular ischemic lesions in older patients presenting with acute diplopia.

A Case of Pseudomonas Orbital Cellulitis Following Glaucoma Device Implantation.

PURPOSE: Orbital cellulitis is a rare complication of aqueous tube shunt surgery. Nine cases have been described in the literature, though the microbiologic etiology is rarely reported. Management with intravenous antibiotics and/or explantation has been described. METHODS: This is a case report and literature review. CASE: A 64-year-old woman developed pain, periorbital swelling, limited extraocular motility, proptosis, and conjunctival injection 3 days following implantation of an Ahmed Glaucoma Valve. Computed tomography of the orbits with contrast showed soft tissue fat stranding consistent with orbital inflammation. Initial medical management with topical and intravenous ceftriaxone and vancomycin was unsuccessful. Surgical removal of the implant was performed and intraoperative cultures demonstrated florid Pseudomonas aeruginosa growth. Antibiotic coverage was changed to Piperacillin-Tazobactam for 3 days, with eventual resolution of her orbital symptoms. CONCLUSIONS: We report the first case of orbital cellulitis after implantation of a glaucoma device associated with P. aeruginosa. Failure of intravenous and topical antibiotics led to explantation of the valve and targeted intravenous antibiotic therapy with subsequent clinical improvement.

Characteristics and Long-term Follow-up of Isolated Vertical Nystagmus in Infancy.

PURPOSE: To determine the clinical characteristics and long-term outcomes of infants who presented with isolated vertical nystagmus. METHODS: The medical records of 114 infants who were diagnosed as having nystagmus from 1996 to 2016 were screened. Patients with vertical nystagmus within the first year of life who had unremarkable magnetic resonance imaging of the brain and demonstrated age-appropriate visual behavior were included. The parents of patients in the final study cohort were contacted by telephone to obtain long-term follow-up information. RESULTS: Eight patients comprised the final cohort. Vertical nystagmus was first observed at a mean age of 1.4 months (range: 1 to 2.5 months) and resolved in 87.5% of patients at a mean age of 3.8 months (range: 2 to 10 months). Vertical nystagmus was intermittent in 62.5%, upbeat in 62.5%, and pendular in 37.5% of patients. One patient's nystagmus did not resolve. Seventy-five percent of patient guardians participated in the telephone questionnaire. The mean age of patients at follow-up was 3.5 years (range: 0.5 to 8.1 years). Isolated iris transillumination was discovered in one patient without other features of albinism. Fifty percent of patients had speech delay requiring intervention. No other developmental delays or general medical conditions were identified. CONCLUSIONS: Nystagmus resolved in 87.5% of patients, all before the first year of life, and speech delay was later identified in half of the patients. [J Pediatr Ophthalmol Strabismus. 2018;55(3):159-163.].

A rare case of orbital granulomatous inflammation from explosive hydraulic oil masquerading as orbital cellulitis.

The differential diagnosis for acute orbital inflammation is broad. We report a case of granulomatous orbital inflammation due to high-pressure oil injury to the orbit presenting as an atypical orbital cellulitis. Here we review the presentation and treatment of orbital inflammation from oil.

The Treatment of Giant Cell Arteritis.

OPINION STATEMENT: Giant cell arteritis (GCA) is a systemic inflammatory vasculitis affecting medium and large vessels with potentially sight and life-threatening complications. Early diagnosis and prompt treatment are imperative in order to prevent vision loss and progression of the disease. Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are inflammatory markers which are elevated in the majority of patients and support the diagnosis of GCA among patients who present with typical symptoms. GCA is confirmed with superficial temporal artery biopsy which demonstrates characteristic pathological findings. Treatment of suspected ophthalmic involvement must be initiated urgently, even when diagnostic studies are pending. High dose corticosteroid therapy is the mainstay of treatment and is administered either intravenously or orally to prevent further vision loss and treat systemic vasculitis. Oral corticosteroid therapy is required for months to years with careful follow-up and periodic laboratory evaluations with ESR and CRP. Corticosteroids are tapered gradually over months and may be associated with complications such as hypertension, diabetes mellitus, osteoporosis, psychosis, peptic ulcer disease, and infection. Supplementation with calcium, vitamin D, bisphosphonate therapy, antimicrobial prophylaxis, and initiation of a proton pump inhibitor or Histamine H2-receptor antagonist should be considered. Recurrence of inflammation is common in GCA and necessitates an escalation of corticosteroid dose. Adjunctive immunomodulatory therapy may be considered in patients experiencing relapsing inflammation despite high doses of corticosteroids or those with corticosteroid-induced complications. Emerging evidence for adjunctive therapy with tocilizumab, methotrexate, aspirin, angiotensin receptor blockers, and statins is encouraging and may lead to a more mainstream role for these therapies among patients with GCA.

Congenital Glaucoma and CHARGE Syndrome: A Case Report.

PURPOSE: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms of disease that may account for this association. PATIENTS AND METHODS: We describe a 35-week-old girl with previously diagnosed CHARGE syndrome who presented with corneal edema, buphthalmos, and elevated intraocular pressure in the left eye. She was subsequently diagnosed with congenital glaucoma and started on topical and oral therapy. RESULTS: Examination under anesthesia confirmed the above findings as well as bilateral abnormal angles with an anterior iris insertion at the level of the posterior trabecular meshwork, prominent iris vasculature and stromal strands, and nonvisible scleral spur and ciliary body bands. Trabeculotomy and trabeculectomy were performed in the left eye with a poor outcome. CHARGE syndrome is a complex neurocristopathy, and we propose that the abnormal angle findings and associated asymmetric glaucoma in our patient share a common mechanism of neural crest cell dysfunction. CONCLUSIONS: CHARGE syndrome can be associated with congenital glaucoma and we emphasize the importance of a thorough ophthalmic examination to detect glaucoma with surgical management as deemed appropriate.

Treatment of ocular motor palsies.

OPINION STATEMENT: The management of ocular motor palsies first requires careful determination of the etiology. Possibilities include ischemia, inflammation, infection, trauma, compression, or congenital. Prognosis for recovery varies greatly between etiologies; hence, determination of the underlying process is crucial in the short- and long-term management of these patients. Naturally, our ultimate goal is to improve visual function as much as possible. A guiding principle in the initial management of ocular motor palsies is to improve patient comfort and visual function by eliminating diplopia in primary position while clinically observing the patient for improvement or stability. Offering a definitive treatment which creates the largest possible zone of binocular single vision in primary and reading positions can be undertaken once stability has been demonstrated. In the initial phase after an acute ocular motor palsy has occurred, occlusion of an eye can be used to eliminate diplopia. Options include a patch or applying translucent or satin tape to one of the lenses which prevents diplopia but still lets light through. Alternatively, prismatic correction placed on or ground into spectacles may improve function and restore binocularity in patients with temporary or permanent ocular deviations. This is generally effective for patients with up to 20 to 25 prism diopters (PD) of horizontal misalignment and 10 to 15 PD of vertical. Once a stable misalignment has been demonstrated (several months), a variety of surgical options exist. Use of adjustable sutures, improved suture materials, and surgical techniques has expanded the role and scope of surgery for these patients. Planning the surgical approach is based on residual extraocular muscle function, careful measurements, and assessment of patient expectations.