How do I manage functional visual loss.

Functional visual loss is a subtype of functional neurological disorder (FND) and is a common cause of visual impairment seen in both general and neuro-ophthalmological practice. Ophthalmologists can generally diagnose functional visual loss reasonably confidently but often find it harder to know what to say to the patient, how to approach, or even whether to attempt, treatment. There is little evidence-based treatment despite studies showing up to 60% of adults having impactful symptoms on long-term follow-up. The last 20 years has seen large changes in how we understand, approach, and manage FND more widely. In this article, we set out our practical approach to managing functional visual loss which includes : 1) Make a positive diagnosis based on investigations that demonstrate normal vision in the presence of subjectively impaired vision, not just because tests or ocular exam is normal; 2) Explain and label the condition with an emphasis on these positive diagnostic features, not reassurance; 3) Consider eye or brain comorbidities such as migraine, idiopathic intracranial hypertension or amblyopia; 4) Consider working with an orthoptist using diagnostic tests in a positive way to highlight the possibility of better vision; 5) Develop simple treatment strategies for photophobia; 6) Consider psychological factors and comorbidity as part of assessment and therapy, but keep a broader view of aetiology and don't use this to make a diagnosis; 7) Other treatment modalities including hypnotherapy, transcranial magnetic stimulation and more advanced forms of visual feedback are promising candidates for functional visual loss treatment in the future.

Punctate inner choroidopathy in common variable immunodeficiency associated with a pathogenic variant in the tumour necrosis factor receptor superfamily 13b (TNFRSF13B) gene - Case report and review of the literature.

BACKGROUND: Common variable immunodeficiency (CVID) has been recognised as the most common primary immunodeficiency in adulthood, and is characterised by increased susceptibility to infection, autoimmunity and increased risk of malignancies. Although ocular manifestations are not common in CVID, rare associated inflammatory eye conditions have been reported including submacular choroiditis. OBJECTIVE: To report a case of punctate inner choroidopathy in a patient with common variable immunodeficiency. CASE PRESENTATION: A 40-year-old lady with CVID and associated autoimmune thrombocytopenia, who was treated with immunoglobulin replacement and Eltrombopag, experienced gradually deteriorating right eye vision. Fundal examination and optical coherence tomography (OCT) revealed right multifocal retinal choroidal lesions consistent with a diagnosis of unilateral punctate inner choroidopathy (PIC) with secondary choroidal neovascularisation (CNV). Anti-VEGF injections led to stabilised fundal appearances. Genetic testing revealed a heterozygous sequence change c.260 T > Ap.(IIe87Asn), pathogenic variant in the Tumour Necrosis Factor Superfamily 13B (TNFRSF13B) gene, which is reported as being associated with ∼10% of CVID cases. CONCLUSION: Autoimmunity may be the dominant clinical presenting feature of CVID. Punctuate inner choroidopathy is an idiopathic inflammatory chorioretinopathy, and to the best of our knowledge, has not been previously reported in CVID. A better understanding of the molecular bases of autoimmune diseases in CVID may provide novel therapeutic targets for autoimmune diseases in this patient population.

The incidence of idiopathic intracranial hypertension in Scotland: a SOSU study.

BACKGROUND: Idiopathic intracranial hypertension most commonly affects women of childbearing age and usually causes headache and intermittent visual obscurations. Some patients suffer permanent visual loss. The major modifiable risk factor associated with IIH is obesity. Scotland has one of the poorest records for obesity in the western world, with a prevalence in 2016 of 29% in the adult population. We aimed to establish the incidence of idiopathic intracranial hypertension (IIH) in Scotland. METHODS: All new cases of IIH seen in Scotland were collected over a 1-year period. Cases were reported by ophthalmologists through the Scottish Ophthalmic Surveillance Unit (SOSU) and by neurologists directly to the investigators using encrypted NHS emails. An open dialogue was maintained between the investigators and specialist neuro-ophthalmology clinics throughout the year to minimise the risk of under-reporting. Cases were defined using the Modified Dandy Diagnostic Criteria. RESULTS: One hundred and forty-four confirmed cases of IIH were reported. One hundred and ten out of 144 patients were female and aged 15-44. The mean BMI in this group was 38.9. CONCLUSIONS: The incidence of IIH in Scotland is at least 2.65/100,000. This figure rises to 37.9/100,000 in obese females aged 15-44. This figure is higher than previously published and is probably a result of increasing levels of obesity across the nation. The significant morbidity caused by IIH, in this young population raises the question of whether enough is being done to prevent and treat Scotland's obesity crisis.

Amiloride does not protect retinal nerve fibre layer thickness in optic neuritis in a phase 2 randomised controlled trial.

BACKGROUND: Recent basic and clinical evidence suggests amiloride may be neuroprotective in multiple sclerosis (MS) through the blockade of the acid sensing ion channel (ASIC). OBJECTIVE: To examine the neuroprotective efficacy of amiloride in acute optic neuritis (ON). METHODS: A total of 48 patients were recruited to a phase 2, double blind, single site, randomised controlled trial. Scanning laser polarimetry (GDx) at 6 months was the primary outcome measure and optical coherence tomography (OCT) and visual and electrophysiological measures were secondary outcome measures. Participants aged 18-55 years, ≤28 days of onset of first episode unilateral ON, were randomised to amiloride (10 mg daily for 5 months) or placebo ( clinicaltrials.gov , NCT 01802489). RESULTS: Intention-to-treat (ITT) cohort consisted of 43 patients; 23 placebo and 20 amiloride. No significant drug-related adverse events occurred. No significant differences were found in GDx ( p = 0.840). Visual evoked potentials (VEP) were significantly prolonged in the amiloride group compared to placebo ( p = 0.004). All other secondary outcome measures showed no significant difference. Baseline analysis of OCT data demonstrated a significant pre-randomisation thinning of ganglion cell layer. CONCLUSION: Amiloride has not demonstrated any neuroprotective benefit within this trial paradigm, but future neuroprotective trials in ON should target the window of opportunity to maximise potential neuroprotective benefit.

Amiloride Clinical Trial In Optic Neuritis (ACTION) protocol: a randomised, double blind, placebo controlled trial.

INTRODUCTION: Neurodegeneration is a widely accepted contributor to the development of long-term disability in multiple sclerosis (MS). While current therapies in MS predominantly target inflammation and reduce relapse rate they have been less effective at preventing long-term disability. The identification and evaluation of effective neuroprotective therapies within a trial paradigm are key unmet needs. Emerging evidence supports amiloride, a licenced diuretic, as a neuroprotective agent in MS through acid sensing ion channel blockade. Optic neuritis (ON) is a common manifestation of MS with correlates of inflammation and neurodegeneration measurable within the visual pathways. Amiloride Clinical Trial In Optic Neuritis (ACTION) will utilise a multimodal approach to assess the neuroprotective efficacy of amiloride in acute ON. METHODS AND ANALYSIS: 46 patients will be recruited within 28 days from onset of ON visual symptoms and randomised on a 1:1 basis to placebo or amiloride 10 mg daily. Double-blinded treatment groups will be balanced for age, sex and visual loss severity by a random-deterministic minimisation algorithm. The primary objective is to demonstrate that amiloride is neuroprotective in ON as assessed by scanning laser polarimetry of the peripapillary retinal nerve fibre layer (RNFL) thickness at 6 months in the affected eye compared to the unaffected eye at baseline. RNFL in combination with further retinal measures will also be assessed by optical coherence tomography. Secondary outcome measures on brain MRI will include cortical volume, diffusion-weighted imaging, resting state functional MRI, MR spectroscopy and magnetisation transfer ratio. In addition, high and low contrast visual acuity, visual fields, colour vision and electrophysiology will be assessed alongside quality of life measures. ETHICS AND DISSEMINATION: Ethical approval was given by the south central Oxford B research ethics committee (REC reference: 13/SC/0022). The findings from ACTION will be disseminated through peer-reviewed publications and at scientific conferences. TRIAL REGISTRATION NUMBER: EudraCT2012-004980-39, ClinicalTrials.gov Identifier: NCT01802489.