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Taiwan Journal of Ophthalmology 2024This 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...
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. This case highlights the first documented use of mycophenolate in TMD and supports the notion of shared vasculitic origins between TMD and Fuchs' keratitis, raising intriguing questions about targeted therapeutic interventions.
PubMed: 38655002
DOI: 10.4103/tjo.TJO-D-23-00176 -
BMC Medical Genomics Apr 2024This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia,...
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.
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. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation.
DISCUSSION AND CONCLUSIONS
Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.
Topics: Humans; Male; Cone-Rod Dystrophies; Congenital Abnormalities; Homozygote; Kidney; Kidney Diseases; RNA Splice Sites; Situs Inversus; Syndrome; Middle Aged
PubMed: 38649918
DOI: 10.1186/s12920-024-01868-w -
Saudi Journal of Ophthalmology :... 2024Multiple sclerosis (MS) is the most common demyelinating disease affecting the central nervous system. It has a wide range of manifestations and commonly affects the...
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. Although the patient had a family history of MS, there was no similar or previous complaint, with an unremarkable past medical and surgical history. During the examination, she was found to have a complete bilateral absence of horizontal saccade and pursuit, with slight limitations in vertical ones. There was no nystagmus or skew deviation, and the rest of the cranial nerves (CNs) were intact. Her ocular vital signs were normal, and her corrected visual acuity was 20/20 with full-color vision. The rest of the physical and neurological examinations were unremarkable. After referral to neurology, the magnetic resonance imaging showed multiple hyperintense lesions in deep white matter, pons, and midbrain. The correlation of imaging findings with clinical presentation confirmed the diagnosis of a clinically isolated syndrome. Extra-ocular motility (EOM) significantly improved after pulse steroid therapy and five sessions of plasma exchange, but the patient developed 35 prism diopter of acquired concomitant esotropia. She underwent a right medial rectus botulinum toxin injection which dramatically improved her condition, and became orthotropic during the last 2 months of follow-up after the injection.
PubMed: 38628416
DOI: 10.4103/sjopt.sjopt_106_23 -
The Journal of Headache and Pain Apr 2024Patients with migraine often have poor sleep quality between and during migraine attacks. Furthermore, extensive research has identified photophobia as the most common... (Observational Study)
Observational Study
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.
METHODS
A cross-sectional observational study was conducted using existing data extracted from the American Registry for Migraine Research (ARMR). Participants with a migraine diagnosis who had completed the baseline questionnaires (Photosensitivity Assessment Questionnaire (PAQ), Generalized Anxiety Disorder-7 (GAD-7), Patient Health Questionnaire-2 (PHQ-2)), and selected questions of the ARMR Sleep questionnaire were included. Models were created to describe the relationship of photophobia and photophilia with various sleep facets, including sleep quality (SQ), sleep disturbance (SDis), sleep onset latency (SOL), sleep-related impairments (SRI), and insomnia. Each model was controlled for age, sex, headache frequency, anxiety, and depression.
RESULTS
A total of 852 patients meeting the inclusion criteria were included in the analysis (mean age (SD) = 49.8 (13.9), 86.6% (n = 738) female). Those with photophobia exhibited significantly poorer sleep quality compared to patients without photophobia (p < 0.001). Photophobia scores were associated with SQ (p < 0.001), SDis (p < 0.001), SOL (p = 0.011), SRI (p = 0.020), and insomnia (p = 0.005) after controlling for age, sex, headache frequency, depression, and anxiety, signifying that higher levels of photophobia were associated with worse sleep-related outcomes. Conversely, photophilia scores were associated with better sleep-related outcomes for SQ (p < 0.007), SOL (p = 0.010), and insomnia (p = 0.014).
CONCLUSION
Results suggest that photophobia is a significant predictor of poor sleep quality and sleep disturbances in migraine. These results underscore the necessity for comprehensive and systematic investigations into the intricate interplay between photophobia and sleep to enhance our understanding and develop tailored solutions for individuals with migraine.
Topics: Humans; Female; Sleep Quality; Photophobia; Sleep Initiation and Maintenance Disorders; Cross-Sectional Studies; Migraine Disorders; Headache; Registries
PubMed: 38609895
DOI: 10.1186/s10194-024-01756-9 -
American Journal of Ophthalmology Case... Jun 2024To 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.
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. Biomicroscopic examination revealed bilateral corneal haziness with pseudodendritic lesions like tyrosinemia type 2 that were subsided with protein restriction and the use of urea cycle disease (UCD) formula.
CONCLUSIONS AND IMPORTANCE
Citrullinemia is the inherited autosomal recessive disorder of urea cycle that leads to ammonia and accumulation of other toxic substances in the blood. Two types of Citrullinemia have been defined. Citrullinemia type 1, caused by deficiency or reduction in argininosuccinate synthetase enzyme activity due to damaging mutation in ASS1 gene. Citrullinemia type 2 as another subtype is caused by the absence or dysfunction of the mitochondrial membrane carrier protein (SLC25A13), also called CITRIN. Pseudodendritic keratitis is a rare condition that may be seen with tyrosinemia type 2. The association of this ocular complaint with citrullinemia has not been described previously. Awareness of this phenomenon may improve the diagnosis and management of citrullinemia patients.
PubMed: 38601192
DOI: 10.1016/j.ajoc.2024.102044 -
Journal of Clinical Medicine Mar 2024Early-onset myopia increases the risk of irreversible high myopia. This study systematically evaluated the efficacy and safety of low-dose atropine for myopia control... (Review)
Review
Early-onset myopia increases the risk of irreversible high myopia. 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. Four studies involving 644 children with premyopia aged 4-12 years were identified, with atropine concentrations ranging from 0.01% to 0.05%. The analysis focused on myopia incidence and atropine-related adverse events. Lower myopia incidence (RR, 0.62; 95% CI, 0.40-0.97 D/y; = 0.03) and reduction in rapid myopia shift (≥0.5 D/1y) (RR, 0.50; 95% CI, 0.26-0.96 D/y; < 0.01) were observed in the 12-24-month period. Spherical equivalent and axial length exhibited attenuated progression in the atropine group. No major adverse events were detected in either group, whereas the incidence of photophobia and allergic conjunctivitis did not vary in the 12-24-month period. Our meta-analysis supports atropine's efficacy and safety for delaying myopia incidence and controlling progression in children with premyopia. However, further investigation is warranted due to limited studies.
PubMed: 38592670
DOI: 10.3390/jcm13051506 -
Journal of Clinical Medicine Feb 2024Visual snow syndrome (VSS) is a rarely diagnosed neurological phenomenon. It is a visual disorder characterised by the presence of numerous white, black, or translucent... (Review)
Review
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. These complaints are not consistent with a typical migraine with visual aura and cannot be better explained by another disorder. The authors present the case of a 39-year-old woman who was diagnosed with VSS. The symptoms appeared after a migraine attack and had not alleviated. The patient reported a sensation of constant 'TV screen snow'. A neurological examination found no signs of focal damage to the nervous system. The results of the ophthalmological examination, MRI of the brain with contrast, MRI of the eye sockets, and EEG were normal. VSS is a phenomenon that is still not fully understood, different from migraine aura and associated with a number of additional symptoms. VSS is very difficult to treat. In this case, a lot of drugs were used without improvement. Further research must be conducted to determine the best treatment options for these patients.
PubMed: 38592219
DOI: 10.3390/jcm13051373 -
Journal of Medical Economics 2024Migraine is the most common disabling headache disorder and is characterized by recurrent throbbing head pain and symptoms of photophobia, phonophobia, nausea, and...
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 75 mg, 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.
MATERIALS AND METHODS
A model was developed to estimate incremental costs and quality-adjusted life years (QALYs), structured as a decision tree followed by Markov model. Patients received rimegepant or BSC for a migraine attack and were assessed for response (pain relief at 2-h). Responders and non-responders followed different pain trajectories over 48-h cycles. Non-responders discontinued treatment while responders continued treatment for subsequent attacks, with a proportion discontinuing over time. Data sources included a post-hoc pooled analysis of the phase 3 acute rimegepant trials (NCT03235479, NCT03237845, NCT03461757), and a long-term safety study (NCT03266588). The analysis was conducted from the perspective of the UK National Health Service and Personal Social Services over a 20-year time horizon.
RESULTS
Rimegepant resulted in an incremental cost-utility ratio (ICUR) of £10,309 per QALY gained vs BSC, which is cost-effectiveness at a willingness to pay threshold of £30,000/QALY. Rimegepant generated +0.44 incremental QALYs and higher incremental lifetime costs (£4,492). Improved QALYs for rimegepant were a result of less time spent with severe and moderate headache pain.
CONCLUSION
This study highlights the economic value of rimegepant which was found to be cost-effective for the acute treatment of migraine in adults unsuitable for triptans.
Topics: Humans; Migraine Disorders; Cost-Benefit Analysis; Quality-Adjusted Life Years; Piperidines; Pyridines; United Kingdom; Adult; Male; Female; Markov Chains; Administration, Oral; Middle Aged
PubMed: 38590236
DOI: 10.1080/13696998.2024.2340932 -
Korean Journal of Ophthalmology : KJO Jun 2024To determine subjective symptoms and medical history of patients with intermittent exotropia in a large study population. (Observational Study)
Observational Study
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 including 5,385 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.
RESULTS
The mean age of symptom onset was 5.5 years. The most common symptom reported in patients with intermittent exotropia was photophobia (52.1%), followed by diplopia at near fixation (7.3%) and distance fixation (6.2%). Preterm birth was found in 8.8%, and 4.1% had perinatal complications. A family history of strabismus was present in 14.9%, and 5.5% of patients had a family member who underwent strabismus surgery.
CONCLUSIONS
The KIEMS is one of the largest clinical studies on intermittent exotropia. Intermittent exotropia frequently caused photophobia and diplopia, and patients with a family history was not uncommon.
Topics: Humans; Exotropia; Male; Female; Cross-Sectional Studies; Republic of Korea; Child; Child, Preschool; Surveys and Questionnaires; Self Report; Adolescent; Adult; Young Adult; Middle Aged; Infant
PubMed: 38584440
DOI: 10.3341/kjo.2023.0129 -
The Journal of Headache and Pain Apr 2024Migraine stands as a prevalent primary headache disorder, with prior research highlighting the significant involvement of oxidative stress and inflammatory pathways in...
Unveiling the therapeutic potential of Dl-3-n-butylphthalide in NTG-induced migraine mouse: activating the Nrf2 pathway to alleviate oxidative stress and neuroinflammation.
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.
METHODS
We established a C57BL/6 mouse model of chronic migraine (CM) using recurrent intraperitoneal injections of nitroglycerin (NTG, 10 mg/kg), and prophylactic treatment was simulated by administering NBP (30 mg/kg, 60 mg/kg, 120 mg/kg) by gavage prior to each NTG injection. Mechanical threshold was assessed using von Frey fibers, and photophobia and anxious behaviours were assessed using a light/dark box and elevated plus maze. Expression of c-Fos, calcitonin gene-related peptide (CGRP), Nucleus factor erythroid 2-related factor 2 (Nrf2) and related pathway proteins in the spinal trigeminal nucleus caudalis (SP5C) were detected by Western blotting (WB) or immunofluorescence (IF). The expression of IL-1β, IL-6, TNF-α, Superoxide dismutase (SOD) and malondialdehyde (MDA) in SP5C and CGRP in plasma were detected by ELISA. A reactive oxygen species (ROS) probe was used to detect the expression of ROS in the SP5C.
RESULTS
At the end of the modelling period, chronic migraine mice showed significantly reduced mechanical nociceptive thresholds, as well as photophobic and anxious behaviours. Pretreatment with NBP attenuated nociceptive sensitization, photophobia, and anxiety in the model mice, reduced expression levels of c-Fos and CGRP in the SP5C and activated Nrf2 and its downstream proteins HO-1 and NQO-1. By measuring the associated cytokines, we also found that NBP reduced levels of oxidative stress and inflammation. Most importantly, the therapeutic effect of NBP was significantly reduced after the administration of ML385 to inhibit Nrf2.
CONCLUSIONS
Our data suggest that NBP may alleviate migraine by activating the Nrf2 pathway to reduce oxidative stress and inflammation in migraine mouse models, confirming that it may be a potential drug for the treatment of migraine.
Topics: Mice; Animals; Calcitonin Gene-Related Peptide; NF-E2-Related Factor 2; Neuroinflammatory Diseases; Reactive Oxygen Species; Photophobia; Mice, Inbred C57BL; Oxidative Stress; Nitroglycerin; Inflammation; Migraine Disorders; Benzofurans
PubMed: 38565987
DOI: 10.1186/s10194-024-01750-1