- MeSH
- Sensation * physiology MeSH
- Humans MeSH
- Perception * physiology MeSH
- Sensation Disorders diagnosis classification pathology MeSH
- Hearing Disorders diagnosis pathology MeSH
- Vision Disorders diagnosis classification pathology MeSH
- Hearing physiology MeSH
- Somatosensory Disorders diagnosis pathology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Hydrocephalus diagnosis drug therapy pathology MeSH
- Humans MeSH
- Papilledema diagnosis etiology drug therapy classification pathology MeSH
- Brain Neoplasms diagnosis etiology classification pathology MeSH
- Oculomotor Nerve Diseases * diagnosis etiology classification MeSH
- Optic Nerve Diseases * classification pathology congenital MeSH
- Neurodegenerative Diseases classification pathology MeSH
- Eye Manifestations MeSH
- Nystagmus, Pathologic classification pathology MeSH
- Pupil Disorders diagnosis etiology classification pathology MeSH
- Vision Disorders diagnosis etiology classification pathology therapy MeSH
- Visual Pathways anatomy & histology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Review MeSH
Farber disease (FD) is a debilitating lysosomal storage disorder characterized by severe inflammation and neurodegeneration. FD is caused by mutations in the ASAH1 gene, resulting in deficient acid ceramidase (ACDase) activity. Patients with ACDase deficiency exhibit a broad clinical spectrum. In classic cases, patients develop hepatosplenomegaly, nervous system involvement, and childhood mortality. Ocular manifestations include decreased vision, a grayish appearance to the retina with a cherry red spot, and nystagmus. That said, the full effect of ACDase deficiency on the visual system has not been studied in detail. We previously developed a mouse model that is orthologous for a known patient mutation in Asah1 that recapitulates human FD. Herein, we report evidence of a severe ocular pathology in Asah1P361R/P361R mice. Asah1P361R/P361R mice exhibit progressive retinal and optic nerve pathology. Through noninvasive ocular imaging and histopathological analyses of these Asah1P361R/P361R animals, we revealed progressive inflammation, the presence of retinal dysplasia, and significant storage pathology in various cell types in both the retina and optic nerves. Lipidomic analyses of retinal tissues revealed an abnormal accumulation of ceramides and other sphingolipids. Electroretinograms and behavioral tests showed decreased retinal and visual responses. Taken together, these data suggest that ACDase deficiency leads to sphingolipid imbalance, inflammation, dysmorphic retinal and optic nerve pathology, and severe visual impairment.
- MeSH
- Ceramides genetics metabolism MeSH
- Farber Lipogranulomatosis * enzymology genetics pathology MeSH
- Acid Ceramidase genetics metabolism MeSH
- Mutation, Missense * MeSH
- Disease Models, Animal MeSH
- Mice, Mutant Strains MeSH
- Mice MeSH
- Optic Nerve * enzymology pathology MeSH
- Vision Disorders * enzymology genetics pathology MeSH
- Retina * enzymology pathology MeSH
- Sphingolipids genetics metabolism MeSH
- Amino Acid Substitution MeSH
- Inflammation enzymology genetics pathology MeSH
- Animals MeSH
- Check Tag
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
The Heidenhain form of Creutzfeldt-Jakob disease (CJD) is a rare CJD variant with predominantly visual symptoms in the early stages. Clinical manifestations of metamorphopsia, hemianopia and Balint's syndrome correlate with the involvement of the posterior cortical regions. A 71-year old healthy and very active man was admitted because of impaired visual acuity, hemianopia, and gait disturbance progressing over one week. MRI found typical cortical hyperintensities in the occipital regions while rhythm slowing and sharp waves were seen in the occipital regions on EEG. Protein 14-3-3 was detected in the cerebrospinal fluid. Postmortem neuropathology revealed typical histopathological changes consistent with CJD. Moreover, we found deposits of phosphorylated tau protein in the limbic regions that met the criteria for primary age-related tauopathy (PART); representing an additional and interesting finding in our case.
- MeSH
- Creutzfeldt-Jakob Syndrome diagnosis pathology MeSH
- Diagnosis, Differential MeSH
- Diffusion Magnetic Resonance Imaging MeSH
- Electroencephalography MeSH
- Fatal Outcome MeSH
- Phosphorylation MeSH
- Comorbidity MeSH
- Humans MeSH
- Brain pathology MeSH
- Neurologic Examination MeSH
- Vision Disorders diagnosis pathology MeSH
- 14-3-3 Proteins MeSH
- tau Proteins chemical synthesis MeSH
- Aged MeSH
- Tauopathies diagnosis pathology MeSH
- Occipital Lobe pathology MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
A 71-year-old woman with Fuchs endothelial dystrophy in the right eye had uneventful phacoemulsification cataract surgery with implantation of a single-piece intraocular lens (IOL) (CT47S) in January 2012. Because of corneal problems and vision loss, uneventful Descemet-stripping automated endothelial keratoplasty (DSAEK) was performed in May 2013. Four months later, a new corneal lamella (repeat DSAEK) was implanted with reinjection of an air bubble into the anterior chamber. Six months after the initial DSAEK, the patient complained of blurred vision. On examination, the cornea was transparent but the IOL presented opacification in the central area. The opacified IOL was explanted and analyzed by light microscopy, which showed the presence of thin granular deposits distributed in an overall round pattern that stained positive for calcium. The opacification of hydrophilic acrylic IOLs is a complication that can occur after uneventful endothelial keratoplasty, especially when rebubbling is necessary.
- MeSH
- Acrylic Resins MeSH
- Phacoemulsification MeSH
- Fuchs' Endothelial Dystrophy surgery MeSH
- Hydrophobic and Hydrophilic Interactions MeSH
- Lens Implantation, Intraocular MeSH
- Injections, Intraocular MeSH
- Calcinosis etiology pathology surgery MeSH
- Humans MeSH
- Lenses, Intraocular * MeSH
- Device Removal MeSH
- Vision Disorders etiology pathology surgery MeSH
- Anterior Chamber surgery MeSH
- Prosthesis Failure * MeSH
- Aged MeSH
- Calcium analysis MeSH
- Air * MeSH
- Descemet Stripping Endothelial Keratoplasty * MeSH
- Visual Acuity physiology MeSH
- Check Tag
- Humans MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
BACKGROUND: The default mode network (DMN) decreases its activity when switching from a resting state to a cognitive task condition, while activity of the network engaged in the given task increases. Visual processing is typically disturbed in Parkinson's disease dementia (PDD). OBJECTIVE: Using functional MRI, we studied the DMN effective connectivity patterns in PDD as compared with cognitively normal patients with Parkinson's disease (PD) and healthy controls (HC) when switching from baseline to a visual cognitive task condition. METHODS: In all, 14 PDD, 18 PD, and 18 age-matched healthy controls participated in this functional MRI study. We used a psychophysiological interaction analysis with the precuneus (PCu) as a seed. The threshold was set at p(FWE) <0.05. RESULTS: The healthy controls showed greater PCu connectivity with the bilateral middle temporal/middle occipital gyri at baseline than during the task condition. The correlation direction changed from positive to negative. Both PD and PDD showed disturbed DMN connectivity with the brain regions that are involved in bottom-up visual processing. In PD, we also found impaired integration of the areas engaged in the ventral attentional network, which might reflect specific attentional deficits observed during the early course of PD. In mild PDD, we detected increased engagement of areas involved in the dorsal attentional network, which corresponds to increased top-down control in this patient group as compared to the healthy controls. CONCLUSION: Our results show impaired dynamic interplay between large scale brain networks in PD that spread far beyond the motor system.
- MeSH
- Atrophy etiology pathology MeSH
- Attention Deficit Disorder with Hyperactivity etiology MeSH
- Cognition Disorders etiology pathology MeSH
- Oxygen blood MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Brain Mapping MeSH
- Models, Neurological MeSH
- Neural Pathways blood supply pathology MeSH
- Neuropsychological Tests MeSH
- Parkinson Disease complications pathology MeSH
- Image Processing, Computer-Assisted MeSH
- Vision Disorders etiology pathology MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Case-Control Studies MeSH
- Photic Stimulation MeSH
- Parietal Lobe blood supply pathology MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Práce se věnuje zásadám posuzování způsobilosti k práci při vadách zraku a onemocnění očí, a to z pohledu úrovně zrakových funkcí potřebných pro určitá povolání, vlivu zrakových funkcí na kvalitu vykonané práce, rizik poškození zdraví osob v důsledku práce člověka s poruchou zrakového orgánu a rizik negativního ovlivnění poruchy zrakového orgánu pracovním procesem. Pozornost je věnována nošení brýlí ve vztahu k vykonávané práci a pracovnímu zařazení jednookých spoluobčanů. Pro některá specifická povolání jsou také zmíněny závazné normy a vyhlášky.
The paper deals with the principles of evaluation of working capacity in refractive errors and eye diseases from the point of view of the level of visual functions required in certain professions, the influence of visual functions on the quality of undertaken work, health risks in individuals with a disorder of a visual organ and risks of negative impact of the working process on the disorder of the visual organ. The attention is paied to using glasses in relation to the undertaken work and working positioning of individuals with one eye lost. Obligatory norms and directives for specific professions are also mentioned.
