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Genes Oct 2020A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having mutations was performed. The data included symptoms,...
A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three participants were identified with biallelic pathogenic sequence variants detected using a targeted NGS gene panel, two of which were novel. Participant I was a Nepalese male aged 68 years, and participants II and III were white Caucasian females aged 69 and 10 years old, respectively. All three had childhood onset nyctalopia, a progressive decrease in central vision, and visual field loss. Patients I and III had photopsia, patient II had photosensitivity and patient III also had photophobia. Visual acuities in patients I and II were preserved even into the seventh decade, with the worst visual acuity measured at 6/36. Visual field constriction was severe in participant I, less so in II, and fields were full to bright targets targets in participant III. Electrophysiology testing in all three demonstrated loss of rod function. The three patients share some of the typical distinctive features of retinopathies, as well as a novel clinical observation of foveal ellipsoid thickening.
Topics: Aged; Child; Eye Diseases, Hereditary; Female; Humans; Male; Mutation; Night Blindness; Orphan Nuclear Receptors; Pedigree; Retinal Degeneration; Retinal Dystrophies; Retinitis Pigmentosa; Visual Fields
PubMed: 33138239
DOI: 10.3390/genes11111288 -
The Journal of Neuroscience : the... Feb 2011In the mammalian retina, excitatory and inhibitory circuitries enable retinal ganglion cells (RGCs) to signal the occurrence of visual features to higher brain areas....
In the mammalian retina, excitatory and inhibitory circuitries enable retinal ganglion cells (RGCs) to signal the occurrence of visual features to higher brain areas. This functionality disappears in certain diseases of retinal degeneration because of the progressive loss of photoreceptors. Recent work in a mouse model of retinal degeneration (rd1) found that, although some intraretinal circuitry is preserved and RGCs maintain characteristic physiological properties, they exhibit increased and aberrant rhythmic activity. Here, extracellular recordings were made to assess the degree of aberrant activity in adult rd1 retinas and to investigate the mechanism underlying such behavior. A multi-transistor array with thousands of densely packed sensors allowed for simultaneous recordings of spiking activity in populations of RGCs and of local field potentials (LFPs). The majority of identified RGCs displayed rhythmic (7-10 Hz) but asynchronous activity. The spiking activity correlated with the LFPs, which reflect an average synchronized excitatory input to the RGCs. LFPs initiated from random positions and propagated across the retina. They disappeared when ionotrophic glutamate receptors or electrical synapses were blocked. They persisted in the presence of other pharmacological blockers, including TTX and inhibitory receptor antagonists. Our results suggest that excitation-transmitted laterally through a network of electrically coupled interneurons-leads to large-scale retinal network oscillations, reflected in the rhythmic spiking of most rd1 RGCs. This result may explain forms of photopsias reported by blind patients, while the mechanism involved should be considered in future treatment strategies targeting the disease of retinitis pigmentosa.
Topics: 2-Amino-5-phosphonovalerate; Action Potentials; Age Factors; Animals; Carbenoxolone; Cyclooxygenase Inhibitors; Disease Models, Animal; Evoked Potentials, Visual; Excitatory Amino Acid Antagonists; GABA Antagonists; Gap Junctions; Glutamic Acid; Glycine; In Vitro Techniques; Light; Male; Meclofenamic Acid; Mice; Mice, Inbred C3H; Mice, Inbred C57BL; Mice, Neurologic Mutants; Nerve Net; Neural Inhibition; Periodicity; Pyridazines; Quinoxalines; Retinal Degeneration; Retinal Rod Photoreceptor Cells; Sodium Channel Blockers; Statistics as Topic; Tetrodotoxin; gamma-Aminobutyric Acid
PubMed: 21307264
DOI: 10.1523/JNEUROSCI.4238-10.2011 -
Headache Feb 2009To compare clinical features, visual characteristics, and treatment of idiopathic intracranial hypertension patients with and without papilledema. (Comparative Study)
Comparative Study
OBJECTIVE
To compare clinical features, visual characteristics, and treatment of idiopathic intracranial hypertension patients with and without papilledema.
BACKGROUND
Idiopathic intracranial hypertension does not often occur without papilledema. This study estimates the prevalence and compares the clinical characteristics of idiopathic intracranial hypertension patients with and without papilledema.
METHODS
We performed a cross-sectional analysis of all idiopathic intracranial hypertension patients diagnosed at the University of Utah Neuro-Ophthalmology Unit between 1990 and 2003. Patient records were reviewed for presence of papilledema and other signs, symptoms, and treatment characteristics. Each patient without papilledema was matched to the patient with papilledema who was closest to his/her age and sex. McNemar's and Wilcoxon-signed rank sum tests were used to compare characteristics between matched pairs.
RESULTS
Among all patients (n = 353), the prevalence of those without papilledema was 5.7% (n = 20). Patients without papilledema reported photopsias (20%), and were found to have spontaneous venous pulsations (75%) and non-physiologic visual field constriction (20%) more often than did those with papilledema. Mean opening pressure, although above normal, was lower in patients without papilledema (mean = 309 mm cerebrospinal fluid) compared with those with papilledema (mean = 373 mm cerebrospinal fluid, P = .031). Idiopathic intracranial hypertension patients without papilledema had more frequent diagnostic lumbar punctures than did patients with papilledema. Visual acuities and treatment were similar between groups.
CONCLUSIONS
The clinical presentation of idiopathic intracranial hypertension without papilledema is only somewhat different from that of idiopathic intracranial hypertension with papilledema. The lower opening pressure in patients without papilledema may explain variations in symptoms and signs between the 2 groups. When there are visual field changes in idiopathic intracranial hypertension without papilledema, non-physiologic visual loss should be considered.
Topics: Adolescent; Adult; Child; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Papilledema; Pseudotumor Cerebri; Vision Disorders
PubMed: 19222592
DOI: 10.1111/j.1526-4610.2008.01324.x -
Acta Ophthalmologica Jun 2009We set out to determine whether morphological retinal changes occur in patients with acute zonal occult outer retinopathy (AZOOR).
PURPOSE
We set out to determine whether morphological retinal changes occur in patients with acute zonal occult outer retinopathy (AZOOR).
METHODS
Five patients diagnosed with AZOOR were studied. They included two men and three women, with an age range of 23-51 years. Symptoms and findings were retrospectively and prospectively collected. The three-dimensional multiplanar optical coherence tomography (OCT) Ophthalmoscope was used to examine the morphology of the retina in patients who were examined between April 2000 to December 2004. Standardized full-field electroretinograms (ERGs) and multifocal ERGs (mfERGs) were recorded.
RESULTS
All the patients reported an acute onset of visual disturbances including a decrease of central vision and photopsia. The a- and b-waves of full-field ERGs were decreased, and the mfERGs in the central area were reduced. Ophthalmoscopic examination showed no obvious fundus abnormalities. OCT Ophthalmoscopic images of a cross-sectional plane revealed hyporeflection at the level of the photoreceptor layer in the macular region in three of five patients, and presence of one or two layers in which the inner/outer segment junction of the photoreceptor layer was absent in the other two patients. En-face, constant depth C-scans, which present the image parallel to the retina, revealed an abnormal, patchy hyper-reflection in the affected eyes of two patients and in the non-affected eye in one of these two patients.
CONCLUSIONS
The changes in OCT Ophthalmoscope B-scan images indicate morphological damage to the photoreceptors, which probably accounts for the functional alterations. The alterations in the C-scan image in the normal fellow eye of one patient suggest that morphological changes may precede symptomatic changes.
Topics: Acute Disease; Adult; Electroretinography; Female; Fluorescein Angiography; Fundus Oculi; Humans; Imaging, Three-Dimensional; Male; Middle Aged; Ophthalmoscopes; Photoreceptor Cells, Vertebrate; Prospective Studies; Retinal Diseases; Retrospective Studies; Tomography, Optical Coherence; Vision Disorders; Visual Fields; Young Adult
PubMed: 18778338
DOI: 10.1111/j.1755-3768.2008.01269.x -
Archives of Ophthalmology (Chicago,... Dec 2009To study 11 patients with melanoma-associated retinopathy (MAR) to clarify the reliability of various methods of diagnostic testing, to determine the underlying...
OBJECTIVES
To study 11 patients with melanoma-associated retinopathy (MAR) to clarify the reliability of various methods of diagnostic testing, to determine the underlying antigenic retinal proteins, and to study the clinical histories and types of associated melanomas.
METHODS
Clinical data were obtained from patients with melanoma who developed marked visual problems. Testing included electroretinography, kinetic visual fields, comparative studies of Western blots, and indirect immunohistologic examination to detect antiretinal antibodies, as well as proteomic studies to identify underlying antigenic retinal proteins.
RESULTS
Patients with MAR typically have rapid onset of photopsias, scotomata, and loss of central or paracentral vision. Ophthalmoscopy seldom shows significant changes early, but electroretinograms are abnormal. Results of Western blots and immunohistologic examination can show antiretinal antibodies but not always. Most patients (9 of 11) had a strong family history of autoimmune disorders. Any type of melanoma (cutaneous, choroidal, ciliary body, or choroidal nevi) may be associated with this paraneoplastic autoimmune reactivity. MAR may precede or follow the diagnosis of melanoma. Patients with MAR have the same antigenic retinal proteins that have been associated with cancer-associated retinopathy. In addition, 2 new antigenic retinal proteins, aldolase A and aldolase C, were found.
CONCLUSIONS
There was a high prevalence of positive family histories of autoimmune disease in patients with MAR. To confirm the disorder, multiple clinical and serum diagnostic techniques (Western blot or indirect immunohistologic examination) are needed. Two newly observed antigenic retinal proteins, aldolase A and aldolase C, are associated with MAR.
Topics: Adult; Aged; Aged, 80 and over; Autoantibodies; Autoantigens; Autoimmune Diseases; Blotting, Western; Electrophoresis, Polyacrylamide Gel; Electroretinography; Female; Fluorescent Antibody Technique, Indirect; Fructose-Bisphosphate Aldolase; Humans; Male; Melanoma; Middle Aged; Paraneoplastic Syndromes; Retinal Diseases; Scotoma; Skin Neoplasms; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Uveal Neoplasms; Visual Fields
PubMed: 20008709
DOI: 10.1001/archophthalmol.2009.311 -
PloS One 2022Photopsia is a photic phenomenon that can be associated with intraocular lenses after cataract surgery. To calculate the relative light intensity of photic effects...
Photopsia is a photic phenomenon that can be associated with intraocular lenses after cataract surgery. To calculate the relative light intensity of photic effects observed after cataract surgery at the foveal region as the most sensitive region of the retina, photopsia was simulated using the ZEMAX optical design software. The simulations are based on the Liou-Brennan eye model with a pupil diameter of 4.5 mm and incorporating implanted IOLs. The hydrophilic IOLs implanted in the eye model have a power of 21 diopter (D) with an optic diameter of 6 mm and 7 mm. Four different intensity detectors are located in specific regions of the eye in this simulation. The ray-tracing analysis was carried out for variations of incident ray angle of 0° to 90° (temporally) in steps of 1°. Depending on the range of incident ray angle, the light intensity was detected at detectors located on the fovea, nasal side of the retina, or the edge surface of the IOLs. Some portion of the input light was detected at specific incident angles in the foveal region. By altering the IOLs edge design to a fully reflective or anti-reflective surface, the range over which the light intensity is detected on the fovea can be shifted. Additionally, with the absorbing edge design, no intensity was detected at the foveal region for incident ray angles larger than 5°. Therefore an absorbing edge design can make photic effects less disturbing for patients.
Topics: Cataract; Computer Simulation; Humans; Lenses, Intraocular; Light; Optics and Photonics; Prosthesis Design; Vision Disorders
PubMed: 35930598
DOI: 10.1371/journal.pone.0272705 -
Radiology Case Reports Apr 2023Preeclampsia constitutes one of the leading causes of maternal morbidity and mortality in the United States. Preeclampsia-related neurological disorders are...
Preeclampsia constitutes one of the leading causes of maternal morbidity and mortality in the United States. Preeclampsia-related neurological disorders are well-established and associated with a broad spectrum of manifestations, including headaches, visual symptoms like blurred vision, photopsia, field defects, and other major clinical events. However, cranial nerve disorders are rare in preeclampsia, which is inadequately researched. Here, we present a 26-year-old primigravida woman with an isolated abducens nerve palsy as the first sign of preeclampsia at 35 weeks of gestation.
PubMed: 36798061
DOI: 10.1016/j.radcr.2023.01.012 -
Medicine Jan 2021Retinitis pigmentosa is a major cause of visual disability and blindness. Photopsia is usually presented in patients with retinal traction caused by posterior vitreous...
INTRODUCTION
Retinitis pigmentosa is a major cause of visual disability and blindness. Photopsia is usually presented in patients with retinal traction caused by posterior vitreous detachment in clinic, which would occur more commonly in those suffer from moderate or high myopia. We describe a patient with leopard-like retinopathy initially complaining of photopsia caused not by myopia but by retinitis pigmentosa.
PATIENT CONCERNS
A 39-year-old woman with a history of moderate myopia presented to us complaining of photopsia for several days.
DIAGNOSIS
Fundus examination revealed leopard-like retinopathy with normal optic disc and macula appearance in both eyes. The atrophy of retinal pigment epithelium was found in peripheral retina while no bone spicule was present. Retinal multimodal imaging helped in the correct diagnosis of retinitis pigmentosa (sine pigmento), later confirmed by genetic testing.
INTERVENTIONS
At current no specific treatment was applied, but the patient was required for follow-up observation every six months.
OUTCOMES
Follow-up observation.
CONCLUSION
This case highlights the potential for retinitis pigmentosa sine pigmento to present with photopsia under cover of myopia and the importance of performing multimodal imaging including fundus autofluorescence for fundus disorders. Careful history review and multimodal imaging with genetic testing would help for the correct diagnosis of retinitis pigmentosa sine pigmento.
Topics: Adult; Diagnosis, Differential; Female; Humans; Myopia; Retinitis Pigmentosa; Vision Disorders
PubMed: 33545995
DOI: 10.1097/MD.0000000000024006 -
Acta Ophthalmologica Sep 2021Effectiveness of ocriplasmin for vitreomacular traction (VMT) varies depending on the presence of common ocular conditions and patient selection criteria. We carried out... (Meta-Analysis)
Meta-Analysis
PURPOSE
Effectiveness of ocriplasmin for vitreomacular traction (VMT) varies depending on the presence of common ocular conditions and patient selection criteria. We carried out a systematic literature review and meta-analysis of ocriplasmin studies conducted in real-world settings (RWS) and compared outcomes with those from randomized controlled trials (RCTs).
METHODS
We included prospective and retrospective studies from RWS documenting effectiveness of ocriplasmin in patients with VMT with or without MH, and RCTs of ocriplasmin versus control. Key end-points were vitreomacular adhesion resolution (VMAR), nonsurgical MH closure, need for vitrectomy and safety. We conducted meta-regression on pooled results to evaluate effects of baseline covariates and study design on outcomes.
RESULTS
Thirty RWS (2402 patients) and 5 RCTs (737 patients) were included epiretinal membrane (ERM) and broad VMA were more prevalent in RCTs. Primary VMAR, vitrectomy and MH closure rates were comparable between RWS and RCTs. Rates of nsVMAR were significantly higher in RWS than RCTs (odds ratio 1.66; 95% confidence interval [CI]: 1.18-2.34). nsVMAR rates were inversely associated with ERM prevalence (odds ratio 0.20; 95% CI: 0.08-0.51). Compared with the recent OASIS trial, RWS reported a higher incidence of new/worsening subretinal fluid cases and less photophobia, photopsia, vitreous floaters, electroretinogram abnormalities and MH progression.
CONCLUSIONS
Ocriplasmin was significantly more effective in achieving nsVMAR in RWS than in RCTs. Lower ERM prevalence in RWS was the single significant explanatory variable for this difference. Conclusions on ocriplasmin safety in RWS are limited due to inconsistent reporting.
Topics: Fibrinolysin; Humans; Intravitreal Injections; Peptide Fragments; Randomized Controlled Trials as Topic; Retinal Diseases; Tomography, Optical Coherence; Visual Acuity
PubMed: 33369248
DOI: 10.1111/aos.14686 -
Journal of Medical Case Reports Mar 2023To report the first case of bull's eye maculopathy associated with veterinary niclosamide.
BACKGROUND
To report the first case of bull's eye maculopathy associated with veterinary niclosamide.
CASE PRESENTATION
A 27-year-old Iranian female presented with a history of reduced vision and photopsia since 3 years, after accidental ingestion of four boluses of veterinary niclosamide. Fundus examination showed atrophy in parafoveal retinal pigmentary epithelium, appearing as bilateral bull's-eye maculopathy. Optical coherence tomography revealed disruption of the parafoveal ellipsoid zone and outer retinal thinning, appearing as a flying saucer sign. Electroretinography displayed decreased scotopic and photopic amplitudes with normal waveform in both eyes. The causality score was 4, showing "possible" retinopathy due to niclosamide according to Naranjo's causality assessment algorithm. Based on clinical and ancillary findings, a diagnosis of niclosamide-induced maculopathy was made.
CONCLUSION
Veterinary niclosamide is an anthelmintic drug that in higher doses could be detrimental to the human retina. Awareness about its side effects and appropriate drug labeling could prevent accidental toxicity.
Topics: Humans; Female; Adult; Niclosamide; Iran; Retina; Macular Degeneration; Tomography, Optical Coherence; Retinal Diseases; Fluorescein Angiography
PubMed: 36966318
DOI: 10.1186/s13256-023-03868-3