| 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. |
- 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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| 3. |
- 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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| 4. |
- 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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