Painful Diplopia as an Initial Presentation of VEXAS Syndrome.

This is a case report describing an unusual presentation of acute painful diplopia that led to the diagnosis of VEXAS syndrome. VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset monogenic auto-inflammatory disease due to somatic UBA1 gene mutation in haematopoietic progenitor cells. Our patient was a 67-year-old diabetic male who presented with painful eye movements associated with diplopia, left periorbital pain and swelling. Imaging revealed an inflammatory process involving multiple intra- and extra-orbital structures. The patient improved initially with a short course of intravenous steroids. However, two months later he re-presented with right facial swelling. Bone marrow biopsy demonstrated UBA1 gene mutation supporting the diagnosis of VEXAS syndrome. This case highlights a unique ocular presentation of VEXAS.

Optic nerve sheath fenestration in patients with visual failure associated with vestibular schwannoma.

Background: Papilloedema and visual failure can occur as a consequence of vestibular schwannoma without evidence of hydrocephalus on imaging. Conventional treatment usually includes CSF diversion procedures. We describe here the novel use of optic nerve sheath fenestration in these patients. Methods: A case series of three patients who underwent optic nerve sheath fenestration for visual complications of vestibular schwannoma. Results: Patients A and B were both 23 year old females, with visual symptoms and papilloedema at the time of presentation with a large vestibular schwannoma. Patient A had progressive, severe visual failure despite treatment with an external ventricular drain and tumour resection. She therefore went on to have bilateral optic nerve sheath fenestration surgery, which restored central vision, improved peripheral vision and resolved papilloedema. Patient B underwent optic nerve sheath fenestration as first line surgical management for visual symptoms from a large vestibular schwannoma. This resulted in resolution of visual symptoms and papilloedema and she went on to have the lesion resected at a later date. Patient C was a 54 year old male who developed visual symptoms and papilloedema following the resection of a vestibular schwannoma. This was found to be secondary to a transverse venous sinus thrombosis and he underwent an optic nerve sheath fenestration to treat the complications of this. He also had restored vision and resolution of papilloedema. Conclusion: We demonstrate, with 3 differing cases, that optic nerve sheath fenestration can be a useful and safe treatment choice for patients with visual failure and papilloedema secondary to vestibular schwannoma.

A Stereotyped Syndrome with Retro-Ocular Pain, Photophobia, and Visual Disturbance Masquerading as Optic Neuritis: Case Series.

We describe here a case series of six patients referred to the Neuro-ophthalmology service in Sheffield, UK with possible acute unilateral optic neuritis. Each patient had a triad of unilateral photophobia, ipsilateral retro-ocular pain, and ipsilateral loss of vision. All patients had normal ocular examinations and investigation findings with no objective structural or functional abnormalities identified. Patients were treated by weaning-off regular analgesia and, where appropriate, commencing migraine prophylaxis. In the three patients with complete recovery of pain, there was also complete recovery of vision. We propose that this is a migraine syndrome and that the decreased visual acuity is a functional consequence of the pain and photophobia.

The presenting visual symptoms of optic chiasmal disease.

Recognising optic chiasmal disease early is important in order to avoid irreversible visual loss and the potential risk of mortality for patients. Yet, there is frequently a delay in the initial diagnosis. Whilst the signs of optic chiasmal disease, particularly the perimetric findings, are well documented in the recent literature, the symptoms have been less well reported. Whilst some patients with optic chiasmal disease will be asymptomatic, many will complain of visual symptoms including symptomatic field defects, problems with central vision, difficulty with near tasks, binocular visual disturbances, colour vision disturbances, photophobia, phosphenes, glare, and rarely, oscillopsia and visual hallucinations. Others may have headache or the severe and sudden visual symptoms associated with pituitary apoplexy. The visual symptoms may be vague or non-specific, even when there are significant bitemporal visual field defects. We aim in this review to describe the presenting visual symptoms of optic chiasmal disease, and to illustrate these with selected qualitative descriptions from the literature. Our hope is that this will aid clinicians in eliciting a careful history of the sometimes subtle symptoms that may be present.

Incidence and survival of uveal melanoma in Northern Ireland: how incomplete data can skew results in rare cancers.

BACKGROUND: The majority of Northern Irish uveal melanoma (UM) patients are diagnosed in Sheffield. This study aims to present incidence and survival outcomes for UM patients from Northern Ireland (NI). METHODS: Collaborative retrospective study between Sheffield and Northern Ireland Cancer Registry (NICR). For UM cases not on both databases, outcomes and survival rates (via Kaplan-Meier analysis) were compared. Anonymised NICR data were used to calculate whole-population incidence of UM for NI. RESULTS: In total, 161 patients from NI were diagnosed in Sheffield, 90 of which were not registered with NICR at the start of this study. Data-omissions were not consistent across patient groups, leading to significant differences between those patients registered and those not. Registered patients had an all-cause 5-year survival rate of only 68.9% compared to 92.5% of those not registered (p < 0.01) and were >17x more likely to have systemic metastases than those not registered (p < 0·001). Following rectification of data-omissions, the European age-standardised incidence rate of UM for NI was 8·6 per million. CONCLUSIONS: This study illustrates the impact of incomplete population-wide data, serving as a real-world lesson in case-identification bias. Rare cancers are at higher risk of omission due to systemic failures as the small numbers involved are not detected by system-wide validation procedures. Following this study, data-transfer agreements between England and NI were actioned, preventing future data-omissions. We present survival and incidence data for UM in NI for the first time, showing the incidence is amongst the highest in Europe, with good survival rates.

Ocular Trauma During the COVID-19 Lockdown.

Purpose: To identify the impact the COVID-19 lockdown had on the presentation and management of sight-threatening ocular trauma.Methods: A retrospective cohort analysis of all patients who presented to the Ophthalmology department of Royal Hallamshire Hospital Sheffield with serious ocular trauma during the COVID-19 lockdown period was performed. Data on mechanism of injury and date of injury, presentation, and surgical repair were collected. This process was repeated for the same dates in the previous 5 years for comparison.Results: During the COVID-19 lockdown period, we saw 10 cases of serious ocular trauma (4 globe ruptures, 4 full-thickness lid lacerations, and 2 intra-ocular foreign bodies). This is 3.33 times the average number of cases over the previous 5 years. The delay between injury and presentation rose to 1.1 days compared to 0.33 days pre-COVID; however, the time taken between presentation to surgery was only slightly affected (12 hours in 2020 compared to 11.38 hours pre-COVID).Conclusion: During the COVID-19 lockdown, the number of serious ocular trauma cases was more than three times the average of the previous 5 years. This increase is partially due to more DIY injuries as people stayed at home, but also surprisingly an increase in falls. There did appear to be a longer delay between injury and presentation, suggesting that patients were reluctant to come into hospital during the pandemic. Surgery was performed within 12 hours on average for both groups, reassuringly indicating that sight-saving surgery was not delayed despite extraordinary circumstances.

Is a virtual clinic model a safe and effective way for assessing patients referred with suspiciously blurred optic discs? The blurred disc clinic.

BACKGROUND: There are increasing numbers of referrals to ophthalmology departments due to blurred optic disc margins. In light of this and the COVID-19 pandemic we aimed to assess whether these patients could be safely assessed without direct contact between the clinician and patient. METHODS: We retrospectively reviewed the records of consecutive patients seen in our 'blurred disc clinic' between August 2018 and October 2019. We then presented anonymous information from their referral letter, their visual fields and optic nerve images to two consultant neuro-ophthalmologists blinded to the outcome of the face-to-face consultation. In the simulated virtual clinic, the two consultants were asked to choose an outcome for each patient from discharge, investigate or bring in for a face-to-face assessment. RESULTS: Out of 133 patients seen in the blurred disc clinic, six (4.5%) were found to have papilloedema. All six were identified by both neuro-ophthalmologists as needing a face-to-face clinic consultation from the simulated virtual clinic. One hundred and twenty (90%) patients were discharged from the face-to-face clinic at the first consultation. The two neuro-ophthalmologists chose to discharge 114 (95%) and 99 (83%) of these respectively from the simulated virtual clinic. The virtual clinic would have potentially missed serious pathology in only one patient who had normal optic discs but reported diplopia at the previous face-to-face consultation. CONCLUSIONS: A virtual clinic model is an effective way of screening for papilloedema in patients referred to the eye clinic with suspicious optic discs. Unrelated or incidental pathology may be missed in a virtual clinic.

Neuro-Ophthalmic Complications of Vestibular Schwannoma Resection: Current Perspectives.

Vestibular schwannomas (VSs), also called acoustic neuromas, are benign intracranial neoplasms of the vestibulocochlear (VIII) cranial nerve. Management options include "wait-and-scan," stereotactic radiosurgery and surgical resection. Due to the proximity of the VIII nerve to the facial (VII) nerve in the cerebello-pontine angle, the VII nerve is particularly vulnerable to the effects of surgical resection. This can result in poor eye closure, lagophthalmos and resultant corneal exposure post VS resection. Additionally, compression from the tumor or resection can cause trigeminal (V) nerve damage and a desensate cornea. The combination of an exposed and desensate cornea puts the eye at risk of serious ocular complications including persistent epithelial defects, corneal ulceration, corneal vascularization, corneal melting and potential perforation. The abducens (VI) nerve can be affected by a large intracranial VS causing raised intracranial pressure (a false localizing sign) or as a result of damage to the VI nerve at the time of resection. Other types of neurogenic strabismus are rare and typically transient. Contralaterally beating nystagmus as a consequence of vestibular dysfunction is common post-operatively. This generally settles to pre-operative levels as central compensation occurs. Ipsilaterally beating nystagmus post-operatively should prompt investigation for post-operative cerebrovascular complications. Papilledema (and subsequent optic atrophy) can occur as a result of a large VS causing raised intracranial pressure. Where papilledema follows surgical resection of a VS, it can indicate that cerebral venous sinus thrombosis has occurred. Poor visual function following VS resection can result as a combination of all these potential complications and is more likely with larger tumors.

Treatment and Outcomes in Nutritional Optic Neuropathy.

PURPOSE OF REVIEW: Nutritional optic neuropathy is a potential cause of severe visual loss; however, appropriate and timely management can result in excellent visual outcomes. The purpose of this review is to outline our current understanding of the treatment and outcomes for nutritional optic neuropathy. RECENT FINDINGS: Current understanding of nutritional optic neuropathy has been greatly aided by some well-reported and investigated epidemics of the condition, most notably the Cuban epidemic optic neuropathy of the early 1990s. More recently, there is an emerging literature surrounding nutritional deficiencies that can occur in patients who have undergone bariatric surgery. There also continues to be a stream of case reports in the literature that add to our understanding. Nutritional optic neuropathy has a great deal of overlap with toxic optic neuropathies and hereditary optic neuropathies and should not be thought of in isolation from these conditions. The mainstay of treatment for nutritional optic neuropathy involves identifying and replacing deficient nutrients as well as identifying and eliminating contributory toxins. It is also important to identify contributory genetic factors and to consider the broader social, economic and societal factors which may contribute.

Effect of cataract surgery on cognition, mood, and visual hallucinations in older adults.

PURPOSE: To assess the impact of cataract surgery on cognition, mood, and visual hallucinations in a cohort of patients aged 75 years and older. SETTING: Secondary care ophthalmology unit in Northeast England. DESIGN: Prospective observational cohort study. METHODS: Participants aged 75 years or older with bilateral cataract and scheduled for cataract surgery were recruited consecutively. Participants were assessed preoperatively and followed for 1 year postoperatively. Cognition was assessed using the revised Addenbrooke's Cognitive Examination (ACE-R), mood was measured with the 15-item Geriatric Depression Scale, visual hallucinations were elicited using the North East Visual Hallucinations Inventory, and visual acuity was assessed using a logMAR chart. RESULTS: One hundred twelve participants were recruited at baseline; 91 (81%) completed 1 year of follow-up. Significant improvements in ACE-R scores were seen between baseline and 1 year postoperatively (95% confidence interval for improvement, 0.5-2.8; P = .005). Improved cognition did not correlate with improved visual acuity (r = -0.13, P = .22). No significant changes in mood were seen during the course of the study (P = .314, repeated-measures 1-way analysis of variance). Complete resolution of complex visual hallucinations occurred in 2 patients after surgery. CONCLUSIONS: Small improvements in cognition and reports of resolved complex visual hallucinations indicate that the benefits of cataract surgery might extend beyond visual improvement. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.

The association between diagnosed glaucoma and cataract and cognitive performance in very old people: cross-sectional findings from the newcastle 85+ study.

PURPOSE: Common age-related eye diseases including glaucoma, cataract and age-related macular degeneration (AMD) have been proposed to be associated with dementia. Few studies have examined the relationship between cognition and cataract or glaucoma. We explored the association between cognition and cataract and glaucoma diagnoses in community-dwelling 85-year-olds. METHODS: Cross-sectional analysis of data from the Newcastle 85+ Study. Diagnoses of eye disease were extracted from family practice records. Cognitive performance was assessed by the standardized mini-mental state examination (sMMSE) and the sMMSE-blind (MMblind). Relationships between glaucoma diagnosis or cataract diagnosis and lower cognition were examined using ordinal logistic regression. RESULTS: Complete data were available for 839 participants. Of these, 36.0% (302/839) had recorded previous cataract surgery, 11.2% (94/839) untreated cataract and 7.9% (66/839) diagnosed glaucoma. Glaucoma diagnosis was associated with lower sMMSE results (odds ratio [OR] 1.76, 95% confidence interval [CI] 1.05-2.95); but not lower MMblind (OR 1.17, 95% CI 0.65-2.12). When compared to no cataract, cataract diagnosis (treated and untreated combined) was associated with higher sMMSE (OR 0.55, 95% CI 0.38-0.79) and MMblind (OR 0.51, 95% CI 0.34-0.76). Previously treated cataract was associated with higher sMMSE (OR 0.72, 95% CI 0.59-0.88) and MMblind (OR 0.68, 95% CI 0.55-0.85). Untreated cataract was not significantly associated with sMMSE (OR 0.65, 95% CI 0.36-1.19) or MMblind (OR 0.73, 95% CI 0.39-1.36). CONCLUSIONS: This large epidemiological study of 85-year-olds found that lower sMMSE but not MMblind was associated with glaucoma diagnosis, suggesting the association may be driven by poor vision. Cataract diagnosis was associated with higher sMMSE and MMblind. Reasons for this observation are unclear but may relate to enhanced help-seeking behavior in people with diagnosed cataract.