Search results for "Outer nuclear layer"
showing 10 items of 13 documents
Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis
2004
Retinal degeneration is an early and progressive event in many forms of neuronal ceroid lipofuscinoses (NCLs), a heterogeneous group of neurodegenerative disorders with unknown pathogenesis. We here used the mutant motor neuron degeneration (mnd) mouse, a late-infantile NCL variant, to investigate the retinal oxidative state and apoptotic cell death as a function of age and sex. Total superoxide dismutase (SOD) activities and thiobarbituric acid-reactive substance (TBARS) levels revealed progressive increases in retinal oxyradicals and lipid peroxides of mnd mice of both sexes. Female mnd retinas showed a higher oxidation rate and consistently exhibited the 4-hydroxy-2-nonenal (4-HNE)-adduc…
AN ULTRASTRUCTURAL STUDY OF THE RETINA IN HUMAN LATE INFANTILE NEUROAXONAL DYSTROPHY
1993
A case involving a girl who died at 11 years of age and who had developed normally until the age of 18 months, at which time further psychomotor maturation stopped and then regressed, is reported. The patient appeared hypotonic and showed loss of deep tendon reflexes, as well as bulbar signs and increasing immobility. Visual impairment resulted in blindness at the age of 7 years. Her disease was diagnosed as late infantile neuroaxonal dystrophy (LINAD) after examination of sural nerve biopsy samples and after autopsy. Under electron microscopy, retinal axons were filled with tubulocisternal profiles and occasional large lamellar clefts close to or distant from synaptic complexes. These lesi…
Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa
2021
Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in EYS (Eyes shut homolog) are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act via a loss-of-function mechanism. In light of the recent successes for other IRDs, we investigated the therapeutic potential of exon skipping for EYS-associated RP. CRISPR/Cas9 was employed to generate zebrafish from which the region encompassing the orthologous exons 37-41 of human EYS (eys exons 40-44) was excised from the genome. The excision of these exons was predicted to maintain the open reading frame and to result in the removal of exactl…
OPTICAL COHERENCE TOMOGRAPHIC FINDINGS IN BIETTI’S CRYSTALLINE TAPETORETINAL DYSTROPHY
2014
Purpose: To report the optical coherence tomography (OCT) findings of Bietti crystalline tapetoretinal dystrophy. Design: Observational case report. Methods: A subject with Bietti crystalline tapetoretinal dystrophy was evaluated with ophthalmoscopy, fluorescein angiography, and OCT (Stratus). Results: OCT showed thinning and hyporeflectivity of the outer nuclear layer in the macula due to photoreceptor degeneration. The retinal areas showing atrophy of the retinal pigment epithelium displayed greater penetration of the optical beam into the choroid and visualization of residual choroidal vessels. The hyperreflective band normally seen under the neurosensory retina was extremely wide when a…
Magnetic resonance imaging and optical coherence tomography correlations in multiple sclerosis beyond anatomical landmarks.
2020
Abstract Objective To investigate multiple sclerosis (MS) optical coherence tomography (OCT) cross-sectional correlations with central nervous system (CNS) magnetic resonance imaging (MRI). Material and methods Peripapillary retinal nerve fiber layer (pRNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner (INL) and outer nuclear layer (ONL) of 54 relapsing remitting (RRMS) and 38 progressive (PMS, 9 primary and 29 secondary) patients were measured. With less than 3 months brain parenchymal fraction (BPF), spinal cord (SC), total gray matter (GM) and white matter volumes were calculated. Demographical and clinical data was compared according to the history of optic neuritis (H…
PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
2019
Abstract Mutations of the PRCD gene are associated with rod-cone degeneration in both dogs and humans. Prcd is expressed in the mouse eye as early as embryonic day 14. In the adult mouse retina PRCD is expressed in the outer segments of both rod and cone photoreceptors. Immunoelectron microscopy revealed that PRCD is located at the outer segment rim, and that it is highly concentrated at the base of the outer segment. Prcd-knockout mice present with progressive retinal degeneration, starting at 20 weeks of age and onwards. This process is reflected by a significant and progressive reduction of both scotopic and photopic electroretinographic responses, and by thinning of the retina, and spec…
Changes in visual function and retinal structure in the progression of Alzheimer's disease
2019
Background Alzheimer's Disease (AD) can cause degeneration in the retina and optic nerve either directly, as a result of amyloid beta deposits, or secondarily, as a result of the degradation of the visual cortex. These effects raise the possibility that tracking ophthalmologic changes in the retina can be used to assess neurodegeneration in AD. This study aimed to detect retinal changes and associated functional changes in three groups of patients consisting of AD patients with mild disease, AD patients with moderate disease and healthy controls by using non-invasive psychophysical ophthalmological tests and optical coherence tomography (OCT). Methods We included 39 patients with mild AD, 2…
2021
Introduction Niemann-Pick type C (NPC) is a lysosomal storage disease that is progressive and life-limiting, with an estimated incidence of 1:120,000 live births. In addition to systemic manifestation with (hepato-)splenomegaly, there are a number of neurological manifestations (ataxia, dysarthria, dementia, cataplexy, epileptic seizures, and psychiatric disorders). Characteristic is vertical supranuclear gaze palsy, which is often overlooked. Early diagnosis and start of therapy improve quality of life. This study aimed to characterize oculomotor dysfunction of NPC patients, and to provide ophthalmologic data including retinal imaging. Methods Eighteen patients with biochemically or genet…
Atrophic Forms (Dry AMD)
2009
Atrophic form of “Dry AMD” is defined by areas of RPE atrophy, often resulting from regression of confluent soft drusen.
Clinical Features and Natural History of AMD on OCT
2009
Despite recent progress, age-related macular degeneration (AMD) remains the leading cause of vision loss in high-income countries, and its incidence appears to be increasing, probably due to longer life span and improved methods of detection.