keyword
https://read.qxmd.com/read/38656019/cataract-surgery-and-artificial-iris-implantation-in-patient-with-oculocutaneous-albinism-a-case-report
#1
Guilherme Vieira Peixoto, Gabriela Tomaz Martinho, Caio Cezar Toledo de Conti, Eduardo Villaça Filho, Renato Klingelfus Pinheiro
We present a case report detailing the successful phacoemulsification surgery with artificial iris implantation for two individuals with oculocutaneous albinism. These women suffered from cataracts, resulting in reduced visual acuity and heightened photophobia due to iris pigmentary epithelium deficiency. The patients underwent phacoemulsification along with prosthetic artificial iris implantation into the posterior chamber. This intervention resulted in improved visual acuity, reduced photophobia and glare, and an overall enhanced quality of life...
2024: Arquivos Brasileiros de Oftalmologia
https://read.qxmd.com/read/38655002/systemic-treatment-and-surgical-intervention-in-inflammatory-terrien-disease
#2
Francisco Arnalich-Montiel
This case report presents a unique instance of a 55-year-old male patient exhibiting features of both Terrien marginal degeneration (TMD) and Fuchs' superficial marginal keratitis. Characterized by peripheral corneal thinning vascularization, and a pseudopterygium, the patient experienced recurrent photophobia, redness, and tearing over 15 years. This case challenges the traditional distinction between TMD and Fuchs' superficial marginal keratitis, suggesting a potential common underlying disorder. Mycophenolate mofetil provided a partial response, while pseudopterygium removal led to sustained remission, emphasizing its therapeutic significance...
2024: Taiwan Journal of Ophthalmology
https://read.qxmd.com/read/38651852/vitiligo-as-a-first-sign-of-vogt-koyanagi-harada-disease
#3
JOURNAL ARTICLE
Marija Vukojević, Nenad Vukojevic, Ante Vuković, Borna Rupčić, Mislav Blažević, Ante Blažević
Vogt-Koyanagi-Harada (VKH) disease is a multisystem disorder characterized by bilateral granulomatous panuveitis resulting in serous retinal detachments, disk edema, and a sunset glow fundus development. Furthermore, it is associated with various extraocular findings, such as tinnitus, hearing loss, vertigo, poliosis, and vitiligo (1). VKH is considered to be an autoimmune disease mediated by T-cells targeting melanocyte antigen tyrosinase peptide (2). Moreover, VKH more often occurs in individuals with a genetic predisposition to the disease, including those of Asian and Hispanic heritage (3)...
December 2023: Acta Dermatovenerologica Croatica: ADC
https://read.qxmd.com/read/38650105/implications-of-high-homocysteine-levels-in-migraine-pain-an-experimental-study-of-the-excitability-of-peripheral-meningeal-afferents-in-rats-with-hyperhomocysteinemia
#4
JOURNAL ARTICLE
Elizaveta Ermakova, Kseniia Shaidullova, Oleg Gafurov, Alsu Kabirova, Dinara Nurmieva, Guzel Sitdikova
OBJECTIVES: Investigation of chronic homocysteine action on the excitability and N-methyl-D-aspartate (NMDA) sensitivity of the peripheral trigeminovascular system of rats. BACKGROUND: Migraine is a neurological disease that affects 15%-20% of the general population. Epidemiological observations show that an increase of the sulfur-containing amino acid homocysteine in plasma-called hyperhomocysteinemia-is associated with a high risk of migraine, especially migraine with aura...
April 22, 2024: Headache
https://read.qxmd.com/read/38649918/a-novel-homozygous-splice-site-variant-in-arl2bp-causes-a-syndromic-autosomal-recessive-rod-cone-dystrophy-with-situs-inversus-asthenozoospermia-unilateral-renal-agenesis-and-microcysts
#5
JOURNAL ARTICLE
Giorgio Placidi, Elena D'Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini
BACKGROUND: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. CASE PRESENTATION: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later...
April 22, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38630375/clinical-course-of-two-siblings-with-potassium-voltage-gated-channel-modifier-subfamily-v-member-2-kcnv2-associated-retinopathy
#6
JOURNAL ARTICLE
Tomoko Sato, Kazuki Kuniyoshi, Takaaki Hayashi, Hirokazu Nishiwaki, Kei Mizobuchi, Shunji Kusaka
BACKGROUND: KCNV2-associated retinopathy causes a phenotype reported as "cone dystrophy with nyctalopia and supernormal rod responses (CDSRR; OMIM# 610356)," featuring pathognomonic findings on electroretinography (ERG). Here, we report the clinical courses of two siblings with CDSRR. CASE REPORTS: Patient 1: A 3-year-old boy with intermittent exophoria was referred to our hospital. The patient's decimal best-corrected visual acuity (BCVA) at age 6 was 0.7 and 0...
April 17, 2024: Documenta Ophthalmologica. Advances in Ophthalmology
https://read.qxmd.com/read/38628416/bilateral-horizontal-gaze-palsy-as-an-initial-presentation-of-a-clinically-isolated-syndrome-a-case-report
#7
Ghadah Alnosair, Khalid A Alanazi, Fatima I Alhumaid, Bayan S Alshuhayb
Multiple sclerosis (MS) is the most common demyelinating disease affecting the central nervous system. It has a wide range of manifestations and commonly affects the visual system. Many patients with MS report decreased vision, diplopia, nystagmus, and abnormal ocular motility. Nevertheless, bilateral horizontal gaze palsies are exceptionally rarely seen. We present the case of a 24-year-old female who came to our pediatric ophthalmology clinic complaining of bilateral horizontal gaze palsy, photophobia, and eye pain for 2 days...
2024: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://read.qxmd.com/read/38627545/enhancing-ophthalmic-triage-identification-of-new-clinical-features-to-support-healthcare-professionals-in-triage
#8
JOURNAL ARTICLE
Anish Jindal, Camilo Brandao-de-Resende, Yan Ning Neo, Mariane Melo, Alexander C Day
OBJECTIVE: To investigate which features from a patient's history are either high or low risk that could support healthcare professionals in ophthalmic emergency triage. METHODS: Prospective, 12,584 visits from 11,733 adult patients attending an Accident and Emergency department at a single tertiary centre were analysed. Data were collected by ophthalmic nurses working in triage, using an online form from August 2021 to April 2022. Multivariate analysis (MVA) was conducted to identify which features from the patients' history would be associated with emergency care...
April 16, 2024: Eye
https://read.qxmd.com/read/38609895/photophobia-is-associated-with-lower-sleep-quality-in-individuals-with-migraine-results-from-the-american-registry-for-migraine-research-armr
#9
JOURNAL ARTICLE
Nina Sharp, Mark J Burish, Kathleen B Digre, Jessica Ailani, Mahya Fani, Sophia Lamp, Todd J Schwedt
BACKGROUND: Patients with migraine often have poor sleep quality between and during migraine attacks. Furthermore, extensive research has identified photophobia as the most common and most bothersome symptom in individuals with migraine, second only to headache. Seeking the comfort of darkness is a common strategy for managing pain during an attack and preventing its recurrence between episodes. Given the well-established effects of daily light exposure on circadian activity rhythms and sleep quality, this study aimed to investigate the relationship between photophobia symptoms and sleep quality in a cohort of patients with migraine...
April 12, 2024: Journal of Headache and Pain
https://read.qxmd.com/read/38601192/pseudodendritic-keratitis-in-citrullinemia-a-report-of-an-unusual-and-novel-ocular-finding-in-this-metabolic-disorder
#10
Davoud Amirkashani, Saeid Talebi, Mohammad Vafaei Shahi, Ali Zekri, Parisa Abdi, Mahdokht Mehramiz
PURPOSE: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. OBSERVATIONS: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citrulinemia was discovered through metabolic testing. Later genetic studies revealed mutations in both ASS1 and SLC25A13 genes. Two years after the first presentation, the patient was re-admitted with complaints of bilateral photophobia and tearing...
June 2024: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/38592670/efficacy-and-safety-of-low-dose-atropine-on-myopia-prevention-in-premyopic-children-systematic-review-and-meta-analysis
#11
REVIEW
Ssu-Hsien Lee, Bor-Yuan Tseng, Jen-Hung Wang, Cheng-Jen Chiu
Background: Early-onset myopia increases the risk of irreversible high myopia. Methods: This study systematically evaluated the efficacy and safety of low-dose atropine for myopia control in children with premyopia through meta-analysis using random-effects models. Effect sizes were calculated using risk ratios (RRs) with 95% confidence intervals (CIs). Comprehensive searches of PubMed, EMBASE, Cochrane CENTRAL, and ClinicalTrials.gov were conducted until 20 December 2023, without language restrictions. Results: Four studies involving 644 children with premyopia aged 4-12 years were identified, with atropine concentrations ranging from 0...
March 5, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38592219/visual-snow-syndrome-in-patient-with-migraine-case-report-and-literature-review
#12
REVIEW
Justyna Chojdak-Łukasiewicz, Edyta Dziadkowiak
Visual snow syndrome (VSS) is a rarely diagnosed neurological phenomenon. It is a visual disorder characterised by the presence of numerous white, black, or translucent dots in the visual field, resembling the 'snow' of an analogue TV set experiencing reception interference. According to The International Classification of Headache Disorders, 3rd edition, visual snow is defined as a pattern of continuous small dots across the visual field lasting >3 months and accompanied by at least two of the following four additional symptoms: palinopsia, increased entoptic phenomena, photophobia, and nyctalopia...
February 28, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38590236/cost-effectiveness-of-rimegepant-oral-lyophilisate-compared-to-best-supportive-care-for-the-acute-treatment-of-migraine-in-the-uk
#13
JOURNAL ARTICLE
Karissa Johnston, Lauren C Powell, Evan Popoff, Gil J L'Italien, Robert Pawinski, Aideen Ahern, Sam Large, Thang Tran, Aaron Jenkins
AIMS: Migraine is the most common disabling headache disorder and is characterized by recurrent throbbing head pain and symptoms of photophobia, phonophobia, nausea, and vomiting. Rimegepant 75mg, an oral lyophilisate calcitonin gene-related peptide antagonist, is the first treatment approved for both the acute and preventative treatment of migraine, and the first acute therapy approved in over 20-years. The objective was to assess the cost-utility of rimegepant compared with best supportive care (BSC) in the UK, for the acute treatment of migraine in the adults with inadequate symptom relief after taking at least 2 triptans, or for whom triptans are contraindicated or not tolerated...
April 9, 2024: Journal of Medical Economics
https://read.qxmd.com/read/38584440/self-reported-findings-of-the-korean-intermittent-exotropia-multicenter-study-questionnaire
#14
JOURNAL ARTICLE
Hee Kyung Yang, Shin Hae Park, Haeng-Jin Lee, Sook-Young Kim, Hyo Jung Gye, So Young Kim, Sun Young Shin, Key Hwan Lim
PURPOSE: To determine subjective symptoms and medical history of patients with intermittent exotropia in a large study population. METHODS: The Korean Intermittent Exotropia Multicenter Study (KIEMS) is a nationwide, observational, cross-sectional, multicenter study conducted by the Korean Association for Pediatric Ophthalmology and Strabismus (KAPOS) including 5385 patients with intermittent exotropia. Subjective symptoms and medical history of patients with intermittent exotropia were extracted by a comprehensive survey based on a self-administered questionnaire according to the study protocol of the KIEMS...
April 8, 2024: Korean Journal of Ophthalmology: KJO
https://read.qxmd.com/read/38579522/insular-cortex-involvement-in-migraine-patients-with-chronic-pain-a-volumetric-radiological-and-clinical-study
#15
JOURNAL ARTICLE
Orkhan Mammadkhanli, Sezgin Kehaya, Serdar Solak, Kaan Yağmurlu
BACKGROUND: This study aimed to assess abnormalities in the insular cortex of individuals suffering from migraines and examine their associations with pain duration, medication usage, and clinical symptoms. METHODS: We analyzed radiological data from 38 migraine patients who had undergone 3D iso T1-weighted brain MRI at our university hospital between 2019 and 2023. Structured questionnaires were used to collect information on participants' age, migraine type, disease duration, clinical symptoms, and medication use...
April 3, 2024: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://read.qxmd.com/read/38569205/a-case-of-alstr%C3%A3-m-syndrome-with-a-novel-variant-in-alms1-gene-presenting-with-cone-rod-dystrophy-as-first-finding
#16
JOURNAL ARTICLE
Busra Yen, Mukaddes Damla Ciftci, Filiz Afrashi, Huseyin Onay, Damla Goksen
PURPOSE: Alström Syndrome (AS) is a rare autosomal recessive monogenic ciliopathy which is caused by a mutation of the Alström syndrome 1 (ALMS1) gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive hepatic and renal failure, sensorineural hearing loss and retinal degeneration. Herein, we aimed to report a novel variant in ALMS1 gene causing AS in a patient presenting with visual impairment. METHODS: Case report...
April 1, 2024: Retinal Cases & Brief Reports
https://read.qxmd.com/read/38565987/unveiling-the-therapeutic-potential-of-dl-3-n-butylphthalide-in-ntg-induced-migraine-mouse-activating-the-nrf2-pathway-to-alleviate-oxidative-stress-and-neuroinflammation
#17
JOURNAL ARTICLE
Yingyuan Liu, Zihua Gong, Deqi Zhai, Chunxiao Yang, Guangshuang Lu, Shuqing Wang, Shaobo Xiao, Chenhao Li, Ludan Chen, Xiaoxue Lin, Shuhua Zhang, Shengyuan Yu, Zhao Dong
BACKGROUND: Migraine stands as a prevalent primary headache disorder, with prior research highlighting the significant involvement of oxidative stress and inflammatory pathways in its pathogenesis and chronicity. Existing evidence indicates the capacity of Dl-3-n-butylphthalide (NBP) to mitigate oxidative stress and inflammation, thereby conferring neuroprotective benefits in many central nervous system diseases. However, the specific therapeutic implications of NBP in the context of migraine remain to be elucidated...
April 2, 2024: Journal of Headache and Pain
https://read.qxmd.com/read/38547628/autonomic-dysfunction-in-patients-with-tectal-plate-compression-a-systematic-review
#18
REVIEW
Sarah E Renberg, Caren M Stuebe, Carolyn Quinsey
INTRODUCTION: Pineal region lesions can result in tectal plate compression, hydrocephalus, and associated symptoms including headache, Parinaud's Syndrome, and epileptic phenomena. No studies have looked at the relationship between these lesions and the autonomic nervous system. METHODS: To evaluate the clinical presentation of pineal lesions secondary to tectal plate compression with a focus on autonomic dysfunction, a systematic review was completed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines...
March 16, 2024: Clinical Neurology and Neurosurgery
https://read.qxmd.com/read/38536549/visual-snow-syndrome-in-patients-with-migraine-widening-the-clinical-spectrum-of-the-syndrome-with-permanent-and-episodic-manifestations
#19
JOURNAL ARTICLE
Carmen González-Ávila, David García-Azorín, Ane Mínguez-Olaondo, Laura Rubio-Flores, Raquel Lamas, Candela Nieves-Castellanos, Alba López-Bravo, Albert Muñoz-Vendrell, Sergio Campoy, Fernando Sebastian-Valles, Sonia Quintas
PURPOSE: Migraine is the comorbidity most frequently associated with visual snow syndrome (VSS), but the prevalence of VSS in patients with migraine (PWM) has not been studied. Our objective was to evaluate the frequency of VSS in PWM and to analyze if symptoms of VSS happened in a permanent or episodic manner (eVSS) in this population. METHODS: We conducted a multicenter observational cross-sectional study. PWM was recruited from headache units, and a survey about the presence of visual snow symptoms was administered...
March 27, 2024: Neurological Sciences
https://read.qxmd.com/read/38531554/clozapine-induced-pneumonitis-mimicking-an-atypical-pneumonia
#20
JOURNAL ARTICLE
Natasha Marcella Vaselli, Stanley Du Preez, Nuwan Jasenthu Kankanamage
Clozapine is an antipsychotic used for treatment-resistant schizophrenia with a significant side effect profile, including agranulocytosis, myocarditis and fever. Clozapine-induced fever often occurs in the first 2 weeks of treatment and settle after a few days. We report a case of a woman in her mid-30s who developed fever and infective symptoms suggestive of an atypical pneumonia while on clozapine titration. She was on clozapine for 16 days before developing high-grade fever, dry cough, diarrhoea, headache and photophobia with a very high CRP...
March 25, 2024: BMJ Case Reports
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