| 1. |
- Anjos, Rita, et al.
(författare)
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Macular Ganglion Cell Layer and Peripapillary Retinal Nerve Fibre Layer Thickness in Patients with Unilateral Posterior Cerebral Artery Ischaemic Lesion : An Optical Coherence Tomography Study
- 2016
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Ingår i: Neuro-ophthalmology (Aeolus Press. 1980). - : Taylor & Francis. - 0165-8107 .- 1744-506X. ; 40:1, s. 8-15
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study is to evaluate the macular ganglion cell layer (GCL) and peripapillary retinal nerve fibre layer (RNFL) thickness in patients with unilateral posterior cerebral artery (PCA) ischaemic lesions using spectral-domain optical coherence tomography (SD-OCT). A prospective, case-control study of patients with unilateral PCA lesion was conducted in the neuro-ophthalmology clinic of Centro Hospitalar Lisboa Central. Macular and peripapillary SD-OCT scans were performed in both eyes of each patient. Twelve patients with PCA lesions (stroke group) and 12 healthy normal controls were included in this study. Peripapillary RNFL comparison between both eyes of the same subject in the stroke group found a thinning in the superior-temporal (p = 0.008) and inferior-temporal (p = 0.023) sectors of the ipsilateral eye and nasal sector (p = 0.003) of the contralateral eye. Macular GCL thickness comparison showed a reduction temporally in the ipsilateral eye (p = 0.004) and nasally in the contralateral eye (p = 0.002). Peripapillary RNFL thickness was significantly reduced in both eyes of patients with PCA compared with controls, affecting all sectors in the contralateral eye and predominantly temporal sectors in the ipsilateral eye. A statistically significant decrease in macular GCL thickness was found in both hemiretinas of both eyes of stroke patients when compared with controls (p < 0.05). This study shows that TRD may play a role in the physiopathology of lesions of the posterior visual pathway.
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| 2. |
- Bro, Tomas, et al.
(författare)
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The Effects of Visual Field Loss from Optic Disc Drusen on Performance in a Driving Simulator
- 2022
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Ingår i: Neuro-ophthalmology (Aeolus Press. 1980). - : TAYLOR & FRANCIS AS. - 0165-8107 .- 1744-506X.
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to compare the driving simulator performance of participants with visual field loss (VFL) from optic disc drusen (ODD) with a normally sighted control group and a group of individuals with glaucoma. Data on performance and safety from a traffic simulator test for five participants with VFL from ODD were retrospectively compared with data from 49 male individuals without visual deficits in a cross-sectional study. VFL of the ODD group was also compared with a group of 20 male glaucoma participants who had failed the same simulator test. Four individuals with ODD regained their driving licences after a successful simulator test and were then followed in a national accident database. All participants with ODD passed the test. No significant differences in safety or performance measures were detected between the normally sighted participants and the ODD group despite severe concentric visual field constrictions. Compared with failed glaucoma male participants, the ODD group had even lower mean sensitivity in the peripheral and peripheral inferior field of vision. None of the four participants with a regained licence were involved in a motor vehicle accident during a 3-year follow-up period after the simulator test. Despite having severe VFL, participants with ODD had no worse performance or safety than controls. As even individuals with severe VFL might drive safely, there is a need for individual practical assessments on licencing issues.
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| 3. |
- Galvez-Ruiz, Alberto, et al.
(författare)
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Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON
- 2018
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Ingår i: Neuro-Ophthalmology. - : Informa UK Limited. - 0165-8107 .- 1744-506X. ; 42:2, s. 73-82
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Tidskriftsartikel (refereegranskat)abstract
- In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.
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| 4. |
- Galvez-Ruiz, Alberto, et al.
(författare)
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Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome
- 2017
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Ingår i: Neuro-Ophthalmology. - : Informa UK Limited. - 0165-8107 .- 1744-506X. ; 41:5, s. 271-278
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Tidskriftsartikel (refereegranskat)abstract
- Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2. Patients 1 and 2 presented with the classic signs of PAPRS: renal disease associated with a congenitally abnormal optic disc, whereas patients 3 and 4 only presented with a congenital optic nerve abnormality and no renal involvement. In patients 1 and 2, the optic nerves were affected by the presence of a central excavation within the optic disc, absence of the central retinal artery, as well as multiple cilioretinal arteries radiating from the periphery of the optic disc. Bilateral optic nerve pits were seen in patient 3, and lastly, in patient 4 there was the presence of superficial gliotic tissue on the left optic disc. All patients presented with a missense mutation in the PAX2 gene, where in patient 4 possibly being only a non-pathogenic variant of the gene. In conclusion, the authors present two patients with classic clinical signs of PAPRS, having two new PAX2 mutations, which until now have not been described in the current literature; another patient with a new PAX2 mutation showing only ocular manifestations of the disease, and lastly, a patient who is a carrier of a variant of the PAX2 gene has a congenitally abnormal optic disc, which is probably not related to PAPRS.
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| 5. |
- Jacobson, Lena, et al.
(författare)
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Ganglion Cell Topography Indicates Pre- or Postnatal Damage to the Retro-Geniculate Visual System, Predicts Visual Field Function and May Identify Cerebral Visual Impairment in Children – A Multiple Case Study
- 2019
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Ingår i: Neuro-Ophthalmology. - : Informa UK Limited. - 0165-8107 .- 1744-506X. ; 43:6, s. 363-370
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Tidskriftsartikel (refereegranskat)abstract
- In this paper, we quantify the degree of ganglion cell layer thinning due to retrograde trans-synaptic degeneration (RTSD) from retro-geniculate damage in six cases who had homonymous visual field defects known since childhood. Three had prenatal injuries, occurring close to mid-gestation and in the first parts of the early and late third trimester, respectively, and representing injuries at different early developmental stages. Three had later acquired injuries, at age 1.5, 4 and 13 years. The impact of the injury to the optic radiations was revealed by fibre tractography. The ganglion cell thinning corresponded with the visual field defects and the extent and location of the primary brain damage. The most important sign of RTSD was asymmetry of the ganglion cell topography within the macular area.
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| 6. |
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| 7. |
- Thylefors, Joakim, et al.
(författare)
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Two Eyes Are Better Than One-Binocular Summation of Dark Vision in Healthy Individuals and Patients with Chronic Respiratory Disease
- 2014
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Ingår i: Neuro-Ophthalmology. - : Informa UK Limited. - 0165-8107 .- 1744-506X. ; 38:3, s. 113-121
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Tidskriftsartikel (refereegranskat)abstract
- We compared monocular and binocular absolute thresholds of dark adaptation in two separate study populations. Eighteen healthy individuals (Group A) and 13 patients with chronic respiratory insufficiency (Group B) were examined three times each by computerised dark adaptometry with simultaneous but separate recordings from each eye and binocularly. The respiratory patients received oxygen supplement at visits 1 and 3. In Group A, at all three visits, binocular dark adaptation was significantly more sensitive (40.5%) than monocular dark adaptation with either eye. In Group B, at visits 1 and 3, binocular dark adaptation was also significantly more sensitive than monocular dark adaptation (40.5% higher than the right and 47% higher than the left eye). However, in Group B, at visit 2 without oxygen treatment, no significant differences were observed between monocular and binocular sensitivities. Binocular dark vision was superior to monocular dark vision in healthy individuals and in patients with respiratory insufficiency that were provided oxygen supplementation. Furthermore, deficit in oxygen seems to affect binocular summation, perhaps by impaired enhancement in the central nervous system.
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| 8. |
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| 9. |
- Weissert, Robert, et al.
(författare)
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Upregulated Retinal Neurofilament Expression in Experimental Optic Neuritis
- 2022
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Ingår i: Neuro-Ophthalmology. - : Informa UK Limited. - 0165-8107 .- 1744-506X. ; 46:4, s. 215-219
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Tidskriftsartikel (refereegranskat)abstract
- In optic neuritis (ON), transient thickening of the macular retinal nerve fibre layer (RNFL) can be observed. This optical coherence tomography-based observation is not understood. The axonal diameter correlates with the neurofilament (Nf) protein content, but there are no data on the retinal tissue concentration of Nfs. The myelin-oligodendrocyte-glycoprotein (MOG) induced experimental autoimmune encephalomyelitis (EAE) model was used to investigate the retinas of Brown Norway rats with (i) visual evoked potentials (VEP) confirmed ON, (ii) VEP confirmed absence of ON and (iii) control animals. Twenty retinas were collected from MOG-EAE and control rats 27 days after immunisation. Retinal tissue Nf concentrations per total protein (μg/mg) were significantly higher in MOG-EAE rats with ON (median 4.29, interquartile range [IQR] 3.41–5.97) compared with MOG-EAE rats without ON (1.14, IQR 1.10–1.67) or control rats (0.93, IQR 0.45–4.00). The data suggest that up-regulation of Nf expression in the retinal ganglion cells precedes development of RNFL atrophy and plausibly explains the transient increase of axonal diameter and RNFL thickening.
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| 10. |
- Hammar, Björn, et al.
(författare)
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A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene
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Ingår i: Neuro-Ophthalmology. - 0165-8107.
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Tidskriftsartikel (refereegranskat)abstract
- To describe the phenotype of a novel form of autosomal dominant episodic nystagmus and to identify the potential genetic aetiology. We identified several individuals in a large Swedish family affected by episodic nystagmus. In total, 39 family members from five generations were invited to participate in the study, of which 17 were included (12 affected and 5 unaffected). The phenotype of the nystagmus was described based on data collected from family members through questionnaires, interviews, clinical examinations and from video recordings of ongoing episodes of nystagmus. Whole genome sequencing (WGS) and further Sanger sequencing for segregation of the identified candidate variants was performed in eight participants (six affected and two unaffected). The 12 affected participants showed a phenotype with episodic nystagmus of early onset. A vertical jerk nystagmus with variable amplitude and frequency was characterized in the analysed video material. No other eye pathology or other disease that could explain the episodic nystagmus was identified among the family participants. Genetic analysis identified a missense variant (p.Ser375Phe) in the gene FRMD5, which segregated with the disease in the eight individuals analysed, from three generations. We describe a novel autosomal dominant form of early onset episodic nystagmus and suggest the FRMD5 gene as a strong candidate gene for this disorder.
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