Neuro-Ophthalmology最新文献

Arachnoid cysts (ACs) are cerebrospinal fluid collections between the two layers of the normal arachnoid membrane. Although they are often asymptomatic with a stationary course, eventual complications may occur. Herein, we report the case of a 9-year-old boy who developed bilateral papilloedema secondary to spontaneous rupture of an AC in the left middle cranial fossa. Although the papilloedema worsened during follow-up, his visual field remained bilaterally stable, supporting the expectant management and obviating the potential morbidity associated with neurosurgical intervention. This case report highlights the importance of a multidisciplinary approach to patients with secondary intracranial hypertension, including serial ophthalmological examinations, which provide a useful guide to surgical decision-making.

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.

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.

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.