ABSTRACT The aim of this study was to evaluate the therapeutic effect of idebenone in patients with OPA1-dominant optic atrophy (DOA). Sixteen patients with genetically confirmed OPA1-DOA were treated with 900 mg idebenone daily for 12 months. The primary endpoint was the best recovery/least deterioration of visual acuity. Secondary endpoints were the changes of visual acuity, colour vision, contrast sensitivity, visual field, peripapillary retinal nerve fibre layer thickness (pRNFLT), and visual-related quality of life. For the primary endpoint, a significant increase was observed for the right eye (p = .0027), for the left eye (p = .0111) and for the better-seeing eye (p = .0152). For visual fields, a significant improvement was observed for the left eye between baseline and 9 months (p = .0038). Regarding pRNFLT, a significant decrease was found for the left eye between baseline and 3 months (p = .0413) and between baseline and 6 months (p = .0448). In the visual function questionnaire, a significant improvement was observed in the subscale general vision (p = .0156) and in the composite score (p = .0256). In conclusion, best recovery of visual acuity improved, even though the amount of improvement was small. Furthermore, a maintenance of visual function after 12 months of idebenone intake could be observed as well as a significant improvement in vision-related quality of life.Whether this effect is due to idebenone treatment, the placebo effect, or is explainable by the natural progression of DOA, remains unclear. Trial registration: EU Clinical Trials Register, EudraCT Number: 2019-001493-28

ABSTRACT Vision specialists will benefit from increased awareness of posterior cortical atrophy (PCA) syndrome. Failure to adequately identify the chief complaint as a visual symptom may lead to incorrect diagnosis or diagnostic delay. A previously healthy, 59-year-old woman presented with a 5-year history of ‘losing her stuff’. Upon psychiatric and neuro-ophthalmological evaluation, this symptom was better recognised as a feature of visual agnosia and simultanagnosia. She also presented with multiple previously unrecognised symptoms indicative of higher visual processing dysfunction, such as alexia without agraphia, ocular motor apraxia, optic ataxia, prosopagnosia, akinetopsia and topographagnosia, so further assessment to investigate for PCA was carried out. After a work-up including cognitive assessment, brain structural/functional imaging, and laboratory tests she was diagnosed with visual-variant Alzheimer’s disease. Patients with PCA merit a detailed review of their symptoms, as well as the use of office tests such as cognitive evaluation tools, different types of perimetry, colour vision tests, and non-delayed psychiatric consultation for correct management and assessment. This report will emphasise five key aspects to be considered when evaluating patients with PCA

ABSTRACT Mercury has been described as been in daily household items such as soaps, skin-lightening creams (SLC), and topical disinfectants. Mercury exposure can reportedly cause damage to the optic nerve and retina. A 30-year-old Somali woman presented with decreased vision and was found to have bilateral optic atrophy. Neuroimaging and laboratory work-up for nutritional deficiencies, heavy metals, and syphilis were performed. Evaluation revealed normal neuroimaging and laboratory work-up except for elevated serum and urine mercury levels. Mercury levels at the initial blood test was 11.1 ug/L (normal limits < 10.0 ug/L) and was 15.7 ug/L on repeat testing. A 24-h urine test showed elevated mercury at 16 ug/24 h (normal limits < 2 ug/24 h). Evaluation of an unlabelled SLC that she was using showed the presence of mercury. It is worth testing for heavy metals in the work-up of bilateral optic atrophy. Clinicians should consider cosmetic products as a potential source of mercury exposure and recommend discontinuation if mercury is present.

ABSTRACT The purpose of this case report is to describe the optical coherence tomography (OCT) features of a peripapillary choroidal neovascular membrane (PPCNVM) in an eye with morning glory disc anomaly (MGDA). A PPCNVM appears as a hyper-reflective mass in the peripapillary area. It should be distinguished from peripapillary hyper-reflective ovoid mass-like structures, which are markers of axoplasmic flow stasis. This case report describes the distinguishing features between the two. The presence of intraretinal cystic spaces are indicative of an active PPCNVM. In conclusion, MGDA can be associated with PPCNVM and OCT can be used in its detection.

ABSTRACT Idiopathic intracranial hypertension (IIH) is a syndrome of isolated elevated intracranial pressure of unknown aetiology. The IIH spectrum has evolved over the past decade making the diagnosis and management more challenging. The neurological examination in IIH is typically normal except for papilloedema and possible cranial nerve 6 palsy. Recent publications have highlighted skull base thinning and remodelling in patients with chronic IIH. Resulting skull base defects can cause meningo-encephalocoeles, which are potential epileptogenic foci. We describe the clinical and radiological characteristics of five IIH patients with seizures and meningo-encephalocoeles as the presenting manifestations of IIH spectrum disorder.

ABSTRACT We report clinical and optical coherence tomography (OCT) differences among patients with occult neuroretinitis and non-arteritic anterior ischaemic optic neuropathy (NAAION). We retrospectively reviewed records of patients with a final diagnosis of occult neuroretinitis and NAAION seen at our institute. Data were collected regarding patient demographics, clinical features, concomitant systemic risk factors, visual function, and optical coherence tomography (OCT) findings at presentation and subsequent follow-up. Fourteen and 16 patients were diagnosed to have occult neuroretinitis and NAAION, respectively. Patients with NAAION were slightly older (median age 49, inter-quartile range [IQR]: 45–54 years, versus 41, IQR: 31–50 years) than patients with neuroretinitis. Seventy-five per cent of patients with NAAION were male versus 43% with neuroretinitis (p = 0.07). Systemic risk factors were present in 87.5% of patients with NAAION versus 21.4% in patients with neuroretinitis (p = 0.001). At presentation, all patients presented with blurred vision, had similar visual function, and had optic disc oedema. In addition, none of the patients had evident retinitis lesions, but 10 (71%) showed evident retinitis lesion at follow-up. Neuroretinitis patients had more often vitreous cells (64% versus 6%, p = 0.001), and subretinal fluid (78.6% versus 37.5%, p = 0.03) than the patients with NAAION. In summary, NAAION patients tended to be slightly older, more often male, and had associated systemic diseases more often than those with neuroretinitis. Neuroretinitis patients more often had posterior vitreous cells and subretinal fluid on OCT. However, larger prospective studies are needed.

ABSTRACT A 60-year-old otherwise healthy male presented with a 1 year history of bilateral progressive visual loss. His best-corrected visual acuity was counting fingers at 2 m with his right eye and counting fingers at 0.5 m with his left eye. Visual field testing revealed bilateral near-total loss of visual fields. Slit-lamp examination was unremarkable, apart from bilateral grade two nuclear sclerotic cataracts. Both optic discs were pale-looking with some retinal pigment epithelial alterations at the left papillomacular region. Enhanced depth imaging optical coherence tomography depicted punctate hyperreflective dots at the inner choroidal level corresponding to the retinal pigment epithelial changes in the left eye. Fundus autofluorescence imaging revealed patchy hyper-autofluorescent and hypo-autofluorescent areas, and there was mild staining in the early and late phases of the fluorescein angiogram at the papillomacular region in the left eye. A diagnosis of bilateral optic neuropathy was made. A full systemic work-up was carried out, and serological tests pointed out the presence of syphilis with normal cranial magnetic resonance imaging. He was treated accordingly. Our case clearly demonstrates the importance of a high clinical suspicion for syphilis in cases of optic neuropathy.

ABSTRACT A 29-year-old female with no family history presented with bilateral progressive blurred vision. Her symptoms appeared at 12-years-old and her visual acuity had since deteriorated from 0.6 to 0.2 bilaterally with decreased critical flicker frequency and bilateral central scotomas. She did not have a relative afferent pupillary defect. Fundoscopy revealed no distinct disc hyperaemia, atrophy, or peripapillary telangiectatic vessels. The retinal nerve fibre layer appeared normal on optical coherence tomography in each eye; however, loss of the interdigitation zone and the disruption of the ellipsoid zone at the fovea were observed in both eyes. Multifocal electroretinography revealed decreased amplitudes at both macula regions. Mitochondrial deoxyribonucleic acid analysis identified an m.14502T>C mutation, one of the primary mutations causing Leber’s hereditary optic neuropathy (LHON). Despite the presence of a marked LHON mutation, however, she was clinically diagnosed as having an occult macular dystrophy. There have only been five previous case reports, all of which were sporadic, which detail the clinical characteristics of the m.14502T>C mutation. The m.14502T>C phenotype is somewhat consistent with that of the other major mutations, including young onset, bilateral progressive visual impairment, and a typical LHON fundus. Nevertheless, m.14502T>C alone has an extremely low penetrance and its phenotype may be minimal or subclinical, as seen in our case. Since little is known about the clinical course of the m.14502T>C mutation it may be possible that the LHON phenotype may appear in later stages of life. Moreover, m.14502T>C may function as a modifier gene, which alters the phenotype of other coexisting major LHON mutations, including penetrance and the severity of the disease, through synergistic effects.