Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.
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SUBMITTER: Llorente-La-Orden C
PROVIDER: S-EPMC9236739 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background: Coronavirus disease-2019 (COVID-19), caused by the severe acute respiratory distress syndrome-coronavirus-2 (SARS-CoV-2), is primarily a respiratory infection but has been recently associated with a variety of neurological symptoms. We present herewith a COVID-19 case manifesting as opsoclonus-myoclonus syndrome (OMS), a rare neurological disorder. Case Presentation: A 63-year-old male diagnosed with COVID-19 infection developed behavioral changes, confusion, and insomnia followed by reduced mobility and abnormal eye movements within 48 h of recovery from respiratory symptoms associated with COVID-19. On examination, he had rapid, chaotic, involuntary saccadic, multidirectional eye movements (opsoclonus), and limb myoclonus together with truncal ataxia. CSF analysis, MRI of the brain, and screening for anti-neuronal and encephalitis related antibodies were negative. Extensive testing revealed no underlying malignancy. The patient was successfully treated with intravenous immunoglobulin (IVIG) with complete resolution of symptoms within 4 weeks of treatment. Conclusion: COVID-19 infection can be associated with the manifestation of opsoclonus myoclonus syndrome, a rare neurological disorder that can be treated with IVIG if not responsive to corticosteroids.
| S-EPMC8215346 | biostudies-literature
Project description:RationaleOpsoclonus-myoclonus syndrome (OMS) is a rare immune-mediated movement disorder, mostly of paraneoplastic or idiopathic origin. The disease usually has an acute onset, serious course and leads rapidly to disability in adult patients. To the best of our knowledge, this is the fourth presented case of OMS with a severe course and complete reversibility of neurological symptoms in a pregnant woman. This report includes videos and a literature review.Patient concernsA 30-year-old woman in the 12th week of pregnancy developed severe nausea and vomiting, after several days balance and gait disorders appeared. On admission to hospital, neurological examination revealed opsoclonus, dysarthria, myoclonic jerks with ataxia of the trunk and limbs with inability to sit, stand or walk.DiagnosisWell-known causes of OMS were excluded. Although in our patient the idiopathic origin of the disorder was taken under consideration, diagnosis of opsoclonus-myoclonus related to the pregnancy was highly likely.InterventionsAfter administration of steroids and benzodiazepines the patient improved.OutcomesIn the 6th month of pregnancy, after termination of immunotherapy, she recovered completely and was able to sit, stand and walk independently. In the 39th week of pregnancy, she delivered a healthy child.LessonsWe confirm that understanding of clinical symptoms and rare causes of OMS contributes to early diagnosis and therapy, which ensures an optimal outcome. One probable cause of OMS could be a physiological change to immune system regulation during pregnancy. The relationship between OMS and pregnancy remains uncertain and needs further investigation.
| S-EPMC8036019 | biostudies-literature
Project description: Not available
| S-EPMC9540966 | biostudies-literature
Project description:BACKGROUND:Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of the locus control region (LCR) and/or parts of the gene cluster. We aimed at investigating the clinical presentation, genetic cause and inheritance underlying a sporadic case of BCM. CASE PRESENTATION:We report a 24-year-old male presenting with congenital photophobia, nystagmus and colour vision abnormalities. There was no history of retinal dystrophy in the family. Clinical diagnosis of BCM was supported by genetic investigations of the patient and his family members. Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. The deletion was absent in the X-chromosomes of both the mother and transmitting grandfather. CONCLUSIONS:The present report provides the clinical findings and the genetic basis underlying a sporadic BCM case which is caused by a de novo deletion within the OPN1LW/MW gene cluster originating from the mother's germline due to Alu-repeat mediated recombination. This is the first report of a de novo deletion resulting in BCM, highlighting the importance to consider BCM and perform genetic testing for this condition in male patients with cone dysfunction also in the absence of a positive family history.
| S-EPMC6019650 | biostudies-literature
Project description:Aspergillary rhinopharyngitis in an equine patient
| PRJEB46193 | ENA
Project description:IntroductionThe GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disorder characterized by a broad clinical spectrum. A novel variant has recently been confirmed in a case of rod-cone dystrophy.Case presentationWe describe the second confirmed case of a classical rod-cone dystrophy associated with a mutation located in exon 6 of GNB1 [NM_002074.5:c.217G>C, p.(Ala73Pro)] in a 56-year-old patient also presenting mild intellectual disability, attention deficit/hyperactivity disorder, and truncal obesity.ConclusionThis paper confirms the role of GNB1 in the pathogenesis of a classic rod-cone dystrophy and highlights the importance of including this gene in the genetic analysis panel for inherited retinal diseases.
| S-EPMC10948171 | biostudies-literature
Project description:Patients with chronic headaches sometimes prefer non-pharmacological methods for pain management. We have shown previously that green light exposure (GLED, Green Light Emitting Diode) reversed thermal hyperalgesia and mechanical allodynia in a rat model of neuropathic pain. This effect is mediated through the visual system. Moreover, we recently showed that GLED was effective in decreasing the severity of headache pain and the number of headache-days per month in migraine patients. The visual system is comprised of image-forming and non-image-forming pathways; however, the contribution of different photosensitive cells to the effect of GLED is not yet known. Here, we report a 66-year-old man with headaches attributed to other disorders of homeostasis and color blindness who was recruited in the GLED study. The subject, diagnosed with protanomaly, cannot differentiate green, yellow, orange, and red colors. After completing the GLED exposure protocol, the subject noted significant decreases in headache pain intensity without reduction in the number of headache-days per month. The subject also reported improvement in the quality of his sleep. These findings suggest that green light therapy mediates the decrease of the headache pain intensity through non-image-forming intrinsically photosensitive retinal ganglion cells. However, the subject did not report a change in the frequency of his headaches, suggesting the involvement of cones in reduction of headache frequency by GLED. This is the first case reported of a colorblind man with chronic headache using GLED to manage his headache pain and may increase our understanding of the contribution of different photosensitive cells in mediating the pain-relieving effects of GLED.
| S-EPMC9493681 | biostudies-literature
Project description:Opsoclonus-myoclonus syndrome is a rare autoimmune syndrome usually seen in children and very rarely in adults. It typically presents with a triad of opsoclonus, myoclonus and ataxia, and is most often associated with a tumor or after an infection or vaccination. Around half of all adult cases are paraneoplastic in origin, and isolated case reports include associations with lung, breast and ovarian cancers. To the best of our knowledge, this is the first-ever reported case of paraneoplastic opsoclonus-myoclonus syndrome occurring in association with a nasopharyngeal carcinoma.A 50-year-old British Caucasian woman presented with left-sided otalgia and subjective hearing loss. Over the coming weeks she developed subacute confusion and dizziness, leading to recurrent falls. Her clinical examination revealed opsoclonus, myoclonus and signs of cerebellar dysfunction. Subsequent magnetic resonance imaging revealed a left-sided nasopharyngeal carcinoma, which was confirmed on biopsy. A tapering dose of steroids and a five-day course of intravenous immunoglobulins, followed by a combination of chemo-radiotherapy for the nasopharyngeal carcinoma, led to a significant clinical improvement. At six months follow-up she had no signs of focal neurological deficit, apart from the inability to tandem walk. We believe that the typical clinical features, presence of a tumor and response to treatment support a paraneoplastic aetiology.We show that a nasopharyngeal carcinoma can be associated with adult onset opsoclonus-myoclonus syndrome. Both neurologists and otorhinolaryngologists must be aware of such a presentation. Prognosis of the syndrome depends on early and adequate management of the tumor, therefore prompt identification of the syndrome and the underlying tumor is essential.
| S-EPMC4456717 | biostudies-other
Project description:Background: Human immunodeficiency viruses (HIV) infection is associated with a broad range of neurological manifestations, including opsoclonus-myoclonus ataxia syndrome (OMAS) occurring in primary infection, immune reconstitution syndrome or in case of opportunistic co-infection. Case: We report the exceptional case of a 43-year-old female under HIV treatment for 10 years who presented initially with suspected epileptic seizure. Although the clinical picture slightly improved under anti-epileptic treatment, it was rapidly attributed to OMAS. The patient exhibited marked opsoclonus, mild dysarthria, upper limbs intermittent myoclonus, ataxia in 4 limbs, truncal ataxia, and a severe gait ataxia (SARA score: 34). The diagnostic work-up showed radiological and biological signs of central nervous system (CNS) inflammation and cerebral venous sinus thromboses. The HIV viral load was higher in cerebrospinal fluid (CSF) than in the blood (4,560 copies/ml vs. 76 copies/ml). She was treated for 5 days with pulsed corticotherapy. Dolutegravir and anticoagulation administration were initiated. Follow-ups at 2 and 4 months showed a dramatic improvement of clinical neurologic status (SARA score at 4 months: 1), reduction of CNS inflammation and revealed undetectable CSF and serum viral loads. Conclusion: This case underlines the importance of the evaluation of the CSF viral load in HIV patients developing OMAS and suggests CSF HIV RNA escape as a novel cause for OMAS.
| S-EPMC7719769 | biostudies-literature
Project description:PurposeBlue cone monochromacy (BCM) is a rare inherited cone disorder in which both long- (L-) and middle- (M-) wavelength sensitive cone classes are either impaired or nonfunctional. Assessing genotype-phenotype relationships in BCM can improve our understanding of retinal development in the absence of functional L- and M-cones. Here we examined foveal cone structure in patients with genetically-confirmed BCM, using adaptive optics scanning light ophthalmoscopy (AOSLO).MethodsTwenty-three male patients (aged 6-75 years) with genetically-confirmed BCM were recruited for high-resolution imaging. Eight patients had a deletion of the locus control region (LCR), and 15 had a missense mutation-Cys203Arg-affecting the first two genes in the opsin gene array. Foveal cone structure was assessed using confocal and non-confocal split-detection AOSLO across a 300 × 300 µm area, centered on the location of peak cell density.ResultsOnly one of eight patients with LCR deletions and 10 of 15 patients with Cys203Arg mutations had analyzable images. Mean total cone density for Cys203Arg patients was 16,664 ± 11,513 cones/mm2 (n = 10), which is, on average, around 40% of normal. Waveguiding cone density was 2073 ± 963 cones/mm2 (n = 9), which was consistent with published histological estimates of S-cone density in the normal eye. The one patient with an LCR deletion had a total cone density of 10,246 cones/mm2 and waveguiding density of 1535 cones/mm2.ConclusionsOur results show that BCM patients with LCR deletions and Cys203Arg mutations have a population of non-waveguiding photoreceptors, although the spectral identity and level of function remain unknown.
| S-EPMC9624264 | biostudies-literature