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1.
Proc Natl Acad Sci U S A ; 121(36): e2409493121, 2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39190350

RESUMO

Characterized by progressive degeneration of retinal ganglion cells (RGCs) and vision loss, glaucoma is the primary cause of irreversible blindness, incurable and affecting over 78 million patients. However, pathogenic mechanisms leading to glaucoma-induced RGC loss are incompletely understood. Unexpectedly, we found that cGAS-STING (2'3'-cyclic GMP-AMP-stimulator of interferon genes) signaling, which surveils displaced double-stranded DNA (dsDNA) in the cytosol and initiates innate immune responses, was robustly activated during glaucoma in retinal microglia in distinct murine models. Global or microglial deletion of STING markedly relieved glaucoma symptoms and protected RGC degeneration and vision loss, while mice bearing genetic cGAS-STING supersensitivity aggravated retinal neuroinflammation and RGC loss. Mechanistically, dsDNA from tissue injury activated microglial cGAS-STING signaling, causing deleterious macroglia reactivity in retinas by cytokine-mediated microglia-macroglia interactions, progressively driving apoptotic death of RGCs. Remarkably, preclinical investigations of targeting cGAS-STING signaling by intraocular injection of TBK1i or anti-IFNAR1 antibody prevented glaucoma-induced losses of RGCs and vision. Therefore, we unravel an essential role of cGAS-STING signaling underlying glaucoma pathogenesis and suggest promising therapeutic strategies for treating this devastating disease.


Assuntos
Glaucoma , Proteínas de Membrana , Microglia , Nucleotidiltransferases , Transdução de Sinais , Animais , Camundongos , Modelos Animais de Doenças , Glaucoma/patologia , Glaucoma/metabolismo , Glaucoma/imunologia , Proteínas de Membrana/metabolismo , Proteínas de Membrana/genética , Camundongos Endogâmicos C57BL , Camundongos Knockout , Microglia/metabolismo , Microglia/patologia , Nucleotidiltransferases/metabolismo , Nucleotidiltransferases/genética , Células Ganglionares da Retina/patologia , Células Ganglionares da Retina/metabolismo
2.
Hum Mol Genet ; 33(4): 374-385, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37934784

RESUMO

Genome-wide association studies have contributed extensively to the discovery of disease-associated common variants. However, the genetic contribution to complex traits is still largely difficult to interpret. We report a genome-wide association study of 2394 cases and 2393 controls for age-related macular degeneration (AMD) via whole-genome sequencing, with 46.9 million genetic variants. Our study reveals significant single-variant association signals at four loci and independent gene-based signals in CFH, C2, C3, and NRTN. Using data from the Exome Aggregation Consortium (ExAC) for a gene-based test, we demonstrate an enrichment of predicted rare loss-of-function variants in CFH, CFI, and an as-yet unreported gene in AMD, ORMDL2. Our method of using a large variant list without individual-level genotypes as an external reference provides a flexible and convenient approach to leverage the publicly available variant datasets to augment the search for rare variant associations, which can explain additional disease risk in AMD.


Assuntos
Estudo de Associação Genômica Ampla , Degeneração Macular , Humanos , Estudo de Associação Genômica Ampla/métodos , Degeneração Macular/genética , Genótipo , Testes Genéticos , Sequenciamento Completo do Genoma , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença , Fator H do Complemento/genética
3.
Am J Hum Genet ; 108(11): 2159-2170, 2021 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-34670133

RESUMO

We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision loss among different LHON mutations, sex, age at onset, and mitochondrial haplogroup. We identified 96 genetically unrelated LHON pedigrees, including 56 unpublished pedigrees, and updated 40 previously known pedigrees, comprising 620 affected individuals and 4,948 asymptomatic carriers. The minimum prevalence of vision loss due to LHON in Australia in 2020 was one in 68,403 individuals. Although our data confirm some well-established features of LHON, the overall risk of vision loss among those with a LHON mutation was lower than reported previously-17.5% for males and 5.4% for females. Our findings confirm that women, older adults, and younger children are also at risk. Furthermore, we observed a higher incidence of vision loss in children of affected mothers as well as in children of unaffected women with at least one affected brother. Finally, we confirmed our previous report showing a generational fall in prevalence of vision loss among Australian men. Higher reported rates of vision loss in males with a LHON mutation are not supported by our work and other epidemiologic studies. Accurate knowledge of risk is essential for genetic counseling of individuals with LHON mutations. This knowledge could also inform the detection and validation of potential biomarkers and has implications for clinical trials of treatments aimed at preventing vision loss in LHON because an overestimated risk may lead to an underpowered study or a false claim of efficacy.


Assuntos
Atrofia Óptica Hereditária de Leber/epidemiologia , Transtornos da Visão/genética , Adolescente , Adulto , Idoso , Austrália/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Óptica Hereditária de Leber/genética , Prevalência , Adulto Jovem
4.
Ophthalmology ; 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38986874

RESUMO

PURPOSE: This study assesses the case frequencies, underlying causes, and vision outcomes in patients with a diagnosis of corneal opacity in the United States. DESIGN: Retrospective cohort study. PARTICIPANTS: Patients in the IRIS® Registry (Intelligent Research in Sight) who received a diagnosis of corneal opacity between January 1, 2013, and November 30, 2020. METHODS: The IRIS Registry contains demographic and clinical data of 79 887 324 patients who sought treatment at eye clinics during the study period. We identified patients with corneal opacity using International Classification of Diseases (ICD), Ninth and Tenth Revisions, codes of 371 (corneal scar) and H17 (corneal opacity), respectively. The analyzed data comprised demographic parameters including age, sex, race, ethnicity, and geographical location. We evaluated clinical data including laterality, cause, disease descriptors, and best-corrected visual acuity (VA) up to 1 year before the onset (± 30 days), at the time of diagnosis, and at 1 year after diagnosis (± 30 days). MAIN OUTCOME MEASURES: Case frequencies, causes, and vision outcomes in patients with a diagnosis of corneal opacity. RESULTS: We identified 5 220 382 patients who received a diagnosis of corneal opacity and scars using H17 (ICD, Tenth Revision) and 371.0 (ICD, Ninth Revision) codes over 7 years. The case frequency of corneal opacity during the study period was 6535 cases per 100 000 patients (6.5%). The mean age of the patients was 63.36 ± 18.14 years, and most were female (57.6%). In the cohort, 38.39% and 30.00% of patients had bilateral and unilateral corneal opacity, respectively. Most of the patients affected by corneal opacity were White (69.13%), followed by Black or African American (6.84%). Corneal dystrophies (64.66%) were the most common cause of corneal opacity in the study cohort. Visual acuity of the patients worsened significantly because of corneal opacity (0.46 ± 0.74 logarithm of the minimum angle of resolution [logMAR]) and did not improve to the baseline (0.37 ± 0.68 logMAR) after management (0.43 ± 0.77 logMAR). The multiple linear regression analysis showed worse vision outcomes in female patients (compared with male patients), and Asian, Black or African American, and American Indian or Alaska Native (compared with White) patients. Additionally, worse vision outcomes were observed in patients with opacity associated with corneal malformation, degenerative disorders, edema, injury, and ulcer compared with those with hereditary corneal dystrophy. CONCLUSIONS: Our study showed that corneal opacity was diagnosed in 6.5% of patients in the IRIS Registry and primarily associated with corneal dystrophies. The final vision outcomes in patients with corneal opacity were significantly worse compared with baseline. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

5.
Ophthalmology ; 131(1): 58-65, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37673374

RESUMO

PURPOSE: To explore the prevalence and causes of loss of visual acuity and visual field in highly myopic eyes. DESIGN: Population-based study. PARTICIPANTS: 4439 subjects of the Beijing Eye Study underwent ophthalmological and systemic examinations including frequency doubling technology perimetry. METHODS: High myopia was defined by a refractive error of ≤-6 diopters (D) or axial length >26.0 mm. MAIN OUTCOME MEASURES: Prevalence of vision impairment causes. RESULTS: 212 highly myopic eyes from 154 participants were included with a mean age of 56.2 ± 9.6 years, a mean refractive error of -9.87 ± 3.70 D and a mean axial length of 27.2 ± 1.3 mm. We observed moderate/severe vision impairment (MSVI) in 40 eyes (18.9%; 95% confidence interval [CI], 13.6-24.2) and blindness in 10 eyes (4.7%; 95% CI, 1.8-7.6). Primary causes for MSVI and blindness were myopic macular degeneration (MMD) (29/50; 58%), age-related macular degeneration (1/50; 2%), and branch macular retinal vein occlusion (1/50; 2%). Secondary causes were MMD (4/50; 8%) and optic nerve atrophy (14/50, 28%), further differentiated into non-glaucomatous optic atrophy (NGOA) (9/50; 18%) and glaucomatous optic atrophy (GOA) (5/50; 10%). Prevalence of MMD as vision impairment cause increased significantly from 1/61 (1.6%) in the refractive error group of -6.00 to ≥-7.00 D, to 16/25 (64%) in the group of <-15.0 D. Higher MMD prevalence correlated with higher myopic refractive error (P < 0.001) and increased likelihood of concomitant optic neuropathy (P < 0.001). Similarly, prevalence of optic neuropathy as vision impairment cause increased from 0/61 (0%) in the refractive error group of -6.00 D to ≥-7.00 D, to 9/25 (36%) in the group of <-15.0 D. Higher optic neuropathy prevalence correlated with more myopic refraction (P < 0.001) and older age (P = 0.02). CONCLUSIONS: In this population-based recruited cohort of highly myopic patients, optic neuropathy accounted for vision impairment in 9.0% eyes, which was lower than the prevalence of MMD as vision impairment cause (18.9%). Notably, optic neuropathy became a significant contributor to vision impairment in more advanced high myopia, reaching 36% in the group with refractive error of <-15.0 D. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Assuntos
Degeneração Macular , Miopia Degenerativa , Atrofia Óptica , Doenças do Nervo Óptico , Humanos , Pessoa de Meia-Idade , Idoso , Pequim , Prevalência , Campos Visuais , Fatores de Risco , Acuidade Visual , Miopia Degenerativa/complicações , Doenças do Nervo Óptico/etiologia , Cegueira/etiologia , Transtornos da Visão/etiologia , Transtornos da Visão/complicações , Degeneração Macular/epidemiologia
6.
Clin Genet ; 106(3): 258-266, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38576124

RESUMO

This research aims to compile recent clinical and genetic data from Turkish patients with inherited retinal disorders and evaluate the effectiveness of targeted Next-generation sequencing panels. The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We used Hereditary Disorder Solution (HDS) by Sophia Genetics and performed next-generation sequencing (NGS) with Illumina NextSeq-500. Bioinformatics analysis using Sophia DDM® SaaS algorithms and ACMG guidelines classified genomic changes. The study involved 354 probands. Disease-causing variants were found in 58.1% of patients, with ABCA4, USH2A, RDH12, and EYS being the most frequently implicated genes. Forty-eight novel variants were detected. This study enhances the knowledge of clinical diagnoses, symptom onset, inheritance patterns, and genetic details for Turkish individuals with hereditary retinal disease. It contributes to broader health strategies by enabling comparisons with other studies.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Mutação , Fenótipo , Doenças Retinianas , Humanos , Turquia , Masculino , Doenças Retinianas/genética , Doenças Retinianas/diagnóstico , Feminino , Adulto , Criança , Adolescente , Pessoa de Meia-Idade , Linhagem , Proteínas do Olho/genética , Predisposição Genética para Doença , Oxirredutases do Álcool/genética , Transportadores de Cassetes de Ligação de ATP/genética , Pré-Escolar , Biologia Computacional/métodos , Estudos de Coortes , Adulto Jovem , Testes Genéticos/métodos , Lactente , Proteínas da Matriz Extracelular
7.
Diabetes Metab Res Rev ; 40(4): e3802, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38634501

RESUMO

AIMS: To systematically clarify the spatiotemporal trends, and age-sex-specific blindness and vision loss (BVL) burden due to high fasting plasma glucose (HFPG) from 1990 to 2019, and project this burden over the next decade. MATERIALS AND METHODS: We obtained the number and rate of years lived with disability (YLDs) for the BVL burden attributable to HFPG by age, sex, socio-demographic index (SDI), and location between 1990 and 2019 from the Global Burden of Disease (GBD) 2019 database. The average annual percentage changes (AAPCs) were calculated to assess the temporal trends of HFPG-attributable BVL burden. The Bayesian age-period-cohort model was used to predict the HFPG-attributable BVL burden. RESULTS: In 2019, the global number and age-standardized rate (ASR) for YLDs of BVL attributable to HFPG were 673.13 (95% UI: 159.52 to 1565.34) thousand and 8.44 (95% UI: 2.00 to 19.63) per 100,000 people, respectively. The highest burdens were found in Oceania, South Asia, and Southeast Asia, and the BVL burden due to HFPG was higher in the elderly and lower SDI regions. From 1990 to 2019, the global ASR of HFPG-attributable BVL gradually increased with AAPC (95% CI) being 0.80 (0.74 to 0.86). In addition, the HFPG-attributable BVL burden will slightly increase in the future decade. CONCLUSIONS: The HFPG remains the important cause of BVL worldwide, placing a substantial disease burden. From 1990 to 2019, the age-standardized burden of BVL due to HFPG increased, and will consistently increase in the future decade, particularly in the elderly and in regions with middle SDI or below.


Assuntos
Glicemia , Carga Global da Doença , Masculino , Feminino , Humanos , Idoso , Teorema de Bayes , Saúde Global , Cegueira , Jejum , Anos de Vida Ajustados por Qualidade de Vida
8.
BMC Neurol ; 24(1): 124, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38616262

RESUMO

BACKGROUND: Scedosporium apiospermum (S. apiospermum) is a rare fungal pathogen that causes disseminated infections. It rarely affects immunocompetent individuals and has a poor prognosis. CASE PRESENTATION: A 37-year-old woman presented with multiple lesions in the lungs, brain, and eyes, shortly after near drowning in a car accident. The primary symptoms were chest tightness, limb weakness, headache, and poor vision in the left eye. S. apiospermum infection was confirmed by metagenomic next-generation sequencing (mNGS) of intracranial abscess drainage fluid, although intracranial metastases were initially considered. After systemic treatment with voriconazole, her symptoms improved significantly; however, she lost vision in her left eye due to delayed diagnosis. CONCLUSION: While S. apiospermum infection is rare, it should be considered even in immunocompetent patients. Prompt diagnosis and treatment are essential. Voriconazole may be an effective treatment option.


Assuntos
Infecções Fúngicas Invasivas , Afogamento Iminente , Scedosporium , Humanos , Feminino , Adulto , Afogamento Iminente/complicações , Voriconazol/uso terapêutico , Encéfalo
9.
Int J Geriatr Psychiatry ; 39(9): e6149, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39289786

RESUMO

OBJECTIVES: Hearing and vision impairments are associated with cognitive decline and dementia risk. Explanations for this include age-related processes impacting on sensory and cognitive function (common cause), or sensory impairments having a direct or indirect impact on cognition via social engagement, depression and physical activity (cascade). We tested whether associations between hearing, vision and episodic memory were mediated by allostatic load, social engagement, depression and physical activity. METHODS: We used structural equation modelling with cross-sectional data from the USA (n = 4746, aged 50-101), England (n = 4907, aged 50-89) and Ireland (4292, aged 50-80) to model factors related to the common cause (indexed by allostatic load) and the cascade hypothesis with respect to cognitive ability (episodic memory). RESULTS: Poorer hearing/vision was associated with lower social engagement, depression and sedentary lifestyle. Poor vision was not related to allostatic load, and poor hearing was associated with allostatic load in only one data set, contributing to a common-cause hypothesis. Lower social engagement, depression and a sedentary lifestyle were associated with poorer episodic memory, contributing to the cascade hypothesis. Using effect estimates to calculate the proportion of the total effects mediated by the combined mediator variables, up to two fifths of the relationship between hearing and vision with episodic memory can be explained by the mediators. CONCLUSIONS: The association between hearing, vision and episodic memory is mediated by allostatic load, social engagement, depression, and physical activity. The finding that social engagement, depression, and physical activity mediate the association between sensory abilities and cognitive function supported the cascade hypotheses. Interventions to improve healthy lifestyle, reduce depression and foster social engagement of older people with sensory impairments are likely to be beneficial in preventing cognitive decline and dementia.


Assuntos
Disfunção Cognitiva , Depressão , Transtornos da Visão , Humanos , Idoso , Masculino , Feminino , Idoso de 80 Anos ou mais , Estados Unidos/epidemiologia , Irlanda/epidemiologia , Inglaterra/epidemiologia , Estudos Transversais , Pessoa de Meia-Idade , Transtornos da Visão/epidemiologia , Transtornos da Visão/fisiopatologia , Transtornos da Visão/psicologia , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/fisiopatologia , Depressão/epidemiologia , Perda Auditiva/epidemiologia , Perda Auditiva/psicologia , Memória Episódica , Exercício Físico/fisiologia , Alostase/fisiologia , Cognição/fisiologia , Análise de Classes Latentes , Participação Social
10.
Pediatr Nephrol ; 39(6): 1771-1774, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38197957

RESUMO

BACKGROUND: Ischemic optic neuropathy (ION) is exceedingly rare in children on dialysis, resulting from poor perfusion of the optic nerve, and presents as sudden acute painless vision loss. CASE-DIAGNOSIS/TREATMENT: We report the case of a 3-year-old male with stage 5 chronic kidney disease (CKD 5) due to focal segmental glomerulosclerosis (FSGS) status post-bilateral nephrectomy on chronic hemodialysis who had acute loss of vision several hours after a hemodialysis session. Earlier that day, he had a drop in blood pressure intra-dialysis to 89/67 mmHg, with at home blood pressures ranging 90/60 to 150/100 mmHg. The patient was treated with tight blood pressure control to maintain blood flow and prevent blood pressure lability, received high-dose corticosteroids with a corticosteroid taper, and placed on high-dose erythropoietin for neuroprotective effect. He regained partial vision beginning approximately 1 month after presentation. CONCLUSIONS: The exact cause of our patient's simultaneous bilateral anterior and posterior ION, confirmed via MRI and fundoscopic examination, is unclear; however, is likely secondary to a combination of fluctuating blood pressure, anemia, anephric status, and hemodialysis. This highlights the need for close blood pressure monitoring, management of anemia, and more diligent ophthalmologic screening in pediatric patients on chronic hemodialysis.


Assuntos
Anemia , Glomerulosclerose Segmentar e Focal , Falência Renal Crônica , Neuropatia Óptica Isquêmica , Masculino , Humanos , Criança , Pré-Escolar , Neuropatia Óptica Isquêmica/complicações , Neuropatia Óptica Isquêmica/diagnóstico , Diálise Renal/efeitos adversos , Glomerulosclerose Segmentar e Focal/complicações , Falência Renal Crônica/terapia , Anemia/etiologia
11.
Artigo em Inglês | MEDLINE | ID: mdl-38888804

RESUMO

PURPOSE: To clarify the definition, prevalence and classification of different types of unexplained vision loss associated with silicone oil (SO) endotamponades (SO in situ (SOIS) or after removal of SO (ROSO)) in vitreoretinal surgery and identifying the most specific clinical findings and suggesting possible causes. METHODS: Review of the literature regarding randomized clinical trials (RCTs), retrospective case-control, cohort studies and case series evaluating the risk of using SO, published in English between 1994 and 2023, conducting a computer-based search of the following databases: PubMed, Web of Science, Scopus and Embase. The search was supplemented using the Medline option 'Related Articles' and consulting review articles on the topic. RESULTS: Findings from reported clinical examinations in SOIS and ROSO are analyzed and finally different theories regarding the underlying pathophysiology are described. From the clinical point of view, findings have been found in OCT, OCTA, microperimetry and electrophysiological studies. Other clearly identifiable causes of vision loss related to the use of SO are listed and commented as differential diagnosis. Finally, the different physiopathological theories of the two types of causes of unexplained vision have been analyzed. CONCLUSION: Unexpected vision loss under or after SO tamponade (SOIS and ROSO) is a significant concern which is probably underestimated because it is not a clearly defined and known entity. The most frequently described changes were in the ganglion cell complex but this unexpected vision loss remains a serious and unexplained concern for vitreoretinal surgeons and should be identified by clinicians, addressed by manufacturers and reported to Health Authorities as a serious incident according to the new regulation.

12.
BMC Ophthalmol ; 24(1): 417, 2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39333971

RESUMO

BACKGROUND: Instrumental activities of daily living (IADL) are typically self-reported ability to perform complex tasks vital for independent living. There is a need for a complementary objective, performance-based approach especially in tracking outcomes in visual rehabilitation for patients with irreversible vision impairment ("low vision"). Our goals are: (1) To describe the validity of timed performance of instrumental activities of daily living (timed IADL or TIADL) tasks in individuals with irreversible vision impairment, by examining its association with visual function (visual acuity, contrast sensitivity, visual field), (2) To explore the correlation between TIADL and self-reported IADL. METHODS: Twenty TIADL tasks were administered to 88 patients (median age 63.3 years, IQR 37.4-78.0) recruited from the UAB Department of Ophthalmology, Callahan Eye Hospital Clinics. An average Z-score incorporating time and accuracy of task completion was constructed. Minor accuracy errors were penalized 1 standard deviation from their calculated Z-score and major accuracy errors were assigned maximum allotted time. Linear regression was used to analyze the association between TIADL score and measured visual acuity (Early Treatment Diabetic Retinopathy Study, ETDRS chart), contrast sensitivity (Pelli-Robson), and binocular visual field (Esterman) with an unadjusted model and an adjusted model accounting for age, comorbidities, and depression scale (Center for Epidemiological Studies Depression, CES-D). Pearson correlation was used to estimate the correlation between TIADL and IADL. RESULTS: Increased time to task completion was associated with decreased visual function. Each decreased line of ETDRS read was associated with an increase of 0.002 (95% CI 0.001, 0.002) Z-score (P < 0.01). A decreased ability to discern each Pelli-Robson letter was associated with an increase of 0.26 (95% CI 0.19, 0.33) Z-score (P < 0.01). For each less Esterman target identified, there was an increase of 0.01 (95% CI 0.003, 0.02) Z-score. Self-reported IADL and TIADL were correlated for reading tasks such as newspapers, nutrients on food can, and microwave timer (P < 0.05). CONCLUSIONS: Longer time to perform TIADL is associated with decreased visual acuity, contrast sensitivity, and binocular visual field. TIADL and self-reported IADL are significantly correlated for reading tasks providing an accurate, complementary outcome measure in clinical practice and research.


Assuntos
Atividades Cotidianas , Sensibilidades de Contraste , Autorrelato , Acuidade Visual , Campos Visuais , Humanos , Pessoa de Meia-Idade , Feminino , Masculino , Acuidade Visual/fisiologia , Idoso , Campos Visuais/fisiologia , Sensibilidades de Contraste/fisiologia , Adulto , Baixa Visão/fisiopatologia , Baixa Visão/reabilitação , Estudos Transversais
13.
BMC Ophthalmol ; 24(1): 374, 2024 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-39187820

RESUMO

BACKGROUND: Ocular siderosis (OS) is a significant cause of visual loss due to retained ferrous intraocular foreign bodies (IOFB). Despite its rarity, OS can lead to severe visual impairment if not promptly diagnosed and treated. This case is notable due to the occult nature of the IOFB, which was undetected by standard imaging modalities, emphasizing the critical role of magnetic resonance imaging (MRI) in such scenarios. CASE PRESENTATION: A 51-year-old Caucasian male presented with progressive vision loss in his right eye over 20 days. Best corrected visual acuity (BCVA) was 20/1000 in the right eye and 20/20 in the left eye. Intraocular pressure (IOP) was 9 mmHg in both eyes. Slit-lamp examination revealed a small linear corneal wound and an iris defect in the right eye, along with a cataract featuring brownish deposits on the anterior capsule. The left eye was normal. Fundus examination of the right eye was hindered by media opacities. Ultrasonography showed a flat retina and choroid with no detectable IOFB. Despite a strong clinical suspicion of OS, computed tomography (CT) did not detect any IOFB. MRI subsequently identified an artifact in the inferior sectors of the right eye, indicative of a metallic IOFB. Surgical intervention involved a 23-gauge vitrectomy, phacoemulsification, IOFB removal and silicon oil (SO) tamponade resulting in a fully restored VA of 20/20 and normal IOP one month post-operation. SO was removed 2 months later. The retina remained adherent with no PVR development, and optical coherence tomography (OCT) scans showed a normal macula. CONCLUSIONS: This case underscores the importance of considering OS in patients with unexplained vision loss and history of ocular trauma, even when initial imaging fails to detect an IOFB. MRI proved crucial in identifying the IOFB, highlighting its value in the diagnostic process. Early detection and surgical removal of IOFBs are essential to prevent irreversible visual damage. This case demonstrates that MRI should be employed when CT and ultrasonography are inconclusive, ensuring accurate diagnosis and timely intervention to preserve vision.


Assuntos
Corpos Estranhos no Olho , Ferimentos Oculares Penetrantes , Imageamento por Ressonância Magnética , Siderose , Humanos , Corpos Estranhos no Olho/diagnóstico , Corpos Estranhos no Olho/cirurgia , Masculino , Pessoa de Meia-Idade , Ferimentos Oculares Penetrantes/diagnóstico , Ferimentos Oculares Penetrantes/cirurgia , Siderose/diagnóstico , Acuidade Visual , Vitrectomia
14.
Ophthalmic Physiol Opt ; 44(2): 413-425, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38251457

RESUMO

AIM: As a first step in developing an International Classification of Functioning, Disability and Health (ICF) Core Set for adults with vision loss, this systematic review sought to identify the researchers' perspective by identifying the most often used outcome measures and research topics obtained from studies on adults with vision loss. METHODS: PubMed, Embase, CINAHL, APA PsycINFO and Web of Science were searched for studies on vision loss. Meaningful outcome measures and research topics were linked to the ICF components: environmental factors, body functions, body structures and the Activities and Participation life domains. RESULTS: After deduplication, 7219 records remained, of which 2328 articles were eligible for further review. For feasibility reasons, approximately 20% were randomly chosen from every publication year, resulting in 446 included articles. After full-text reading, 349 articles remained, describing 753 outcome measures based on questionnaires and 2771 additional research topics that could be linked to the ICF. Most were linked to the component Activities and Participation, with a focus on recreation and leisure activities (ICF code d920, 70%), reading (d166, 34%) and driving (d475, 27%). For the component body function, seeing functions (b210, 83%) were most often reported. Outcome measures and research topics were least often linked to the body structure component and environmental factors. CONCLUSION: The broad range of ICF categories identified in this systematic review represents the variety of functioning typical for adults with vision loss. These results reflect the focus of researchers over the past 21 years by using various vision-related outcomes. In our next steps to develop the ICF Core Set for Vision Loss, we will include perspectives of experts and lived experience.


Assuntos
Avaliação da Deficiência , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Humanos , Transtornos da Visão/fisiopatologia , Atividades Cotidianas , Cegueira/fisiopatologia , Pessoas com Deficiência/classificação , Qualidade de Vida
15.
J Oncol Pharm Pract ; : 10781552241275538, 2024 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-39140810

RESUMO

INTRODUCTION: Trastuzumab improved the prognosis of patients with human epidermal growth factor receptor 2 (HER2)+ breast cancer (BC). Here, we present a patient who developed acute vision loss due to optic atrophy in both eyes after trastuzumab. CASE REPORT: A 60-year-old female patient was diagnosed with locally advanced HER2+ BC in January 2021. After four cycles of neoadjuvant anthracycline-based chemotherapy followed by four cycles of docetaxel, trastuzumab, and pertuzumab combined treatment, the patient underwent a right modified radical mastectomy. Three days after the end of the second cycle of adjuvant trastuzumab, she presented with acute vision loss. The patient's visual acuity was 90% in the right eye and 60% in the left eye. The left eye had optic nerve edema and spindle hemorrhages. First, on suspicion of optic neuritis, the patient was given a 1 gram/day pulse steroid for three days. However, optic neuritis was not considered during the follow-up. Metastasis was considered at the exit of the left optic nerve. Trastuzumab was started by making a mutual decision with the patient. Six days after the sixth dose of adjuvant trastuzumab, she presented with almost complete vision loss. MANAGEMENT AND OUTCOME: The patient was diagnosed with optic neuritis, and a pulse steroid was administered. Trastuzumab was permanently discontinued. However, the patient's visual acuity in both eyes remained at 5-10%. DISCUSSION: Vision loss due to optic neuritis is a devastating side effect. Understanding that trastuzumab-induced optic neuritis may develop will help clinicians detect side effects early and manage them more effectively.

16.
Clin Exp Ophthalmol ; 52(3): 365-373, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38380782

RESUMO

Injectable dermal fillers continue to increase in popularity in aesthetic medicine. Although rare, vision loss secondary to filler injections is a devastating complication associated with a poor visual prognosis. The mechanism for vision loss is thought to be related to retrograde embolization of the dermal filler from peripheral vessels in the face into the ophthalmic arterial system. Early recognition and prompt management are essential if vision is to be salvaged. The use of retrobulbar hyaluronidase is still contentious, however when administered by a specialist, this treatment gives the best chance at visual recovery and should be considered for all cases.


Assuntos
Técnicas Cosméticas , Preenchedores Dérmicos , Humanos , Preenchedores Dérmicos/efeitos adversos , Injeções , Transtornos da Visão , Artéria Oftálmica , Ácido Hialurônico , Técnicas Cosméticas/efeitos adversos , Hialuronoglucosaminidase
17.
Clin Exp Ophthalmol ; 52(3): 294-316, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38385625

RESUMO

Sarcoidosis is a leading cause of non-infectious uveitis that commonly affects middle-aged individuals and has a female preponderance. The disease demonstrates age, sex and ethnic differences in clinical manifestations. A diagnosis of sarcoidosis is made based on a compatible clinical presentation, supporting investigations and histologic evidence of non-caseating granulomas, although biopsy is not always possible. Multimodal imaging with widefield fundus photography, optical coherence tomography and angiography can help in the diagnosis of sarcoid uveitis and in the monitoring of treatment response. Corticosteroid remains the mainstay of treatment; chronic inflammation requires steroid-sparing immunosuppression. Features on multimodal imaging such as vascular leakage may provide prognostic indicators of outcome. Female gender, prolonged and severe uveitis, and posterior involving uveitis are associated with poorer visual outcomes.


Assuntos
Sarcoidose , Uveíte , Pessoa de Meia-Idade , Humanos , Feminino , Uveíte/diagnóstico , Uveíte/tratamento farmacológico , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico , Prognóstico , Técnicas de Diagnóstico Oftalmológico , Inflamação
18.
Subst Use Misuse ; : 1-10, 2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39175153

RESUMO

Background: The number of people in the U.S. affected by sensory disabilities and/or substance use has continued to increase, but the relationship between them has yet to be fully understood. The purpose of this review is to assess the relationship between substance use and vision loss in the U.S. as described by current literature. Methods: A search of published literature was conducted across MEDLINE, APA PsycINFO, Web of Science, and EBSCO: Psychology and Behavioral Sciences Collection, and CINAHL following the Preferred Reporting Items for Systematic Reviews and Meta Analysis (PRISMA) protocol. Risk of bias was assessed by the authors based on study design. U.S. based studies written in English between 2010 and 2022 that reported on vision loss and substance use were included. Results: In all, 21 articles were included (case reports 11, case series 1, cross-sectional 4, retrospective cohort 3, review 2) representing 89,132 patients. Nineteen studies found a positive association between vision loss and substance use, with 15 studies suggesting substance use was a risk factor for vision loss. One study reported on vision loss preceding substance use but was inconclusive. Conclusions: Our findings suggest that substance use may be a risk factor for vision loss, and we recommend that providers screen for vision loss in at risk patients to mitigate further disability. Further research is needed to assess the impact visual disabilities may have on substance use, and stronger evidence is needed to verify if substance use is truly a risk factor for vision loss.

19.
J Emerg Med ; 66(2): 192-196, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38278678

RESUMO

BACKGROUND: Eye-related symptoms are a common presentation in the emergency department (ED). The cases range from simple viral conjunctivitis to trauma-related eye injuries. One pathological condition that could lead to vision loss is retinal artery occlusion (RAO). Evaluating a patient with an eye symptom requires thorough eye examination and advanced imaging in certain instances. Consultation with an ophthalmologist is also necessary for cases that require treatment recommendations and further testing. In the ED, point-of-care ultrasound (POCUS) is a commonly used diagnostic tool that can be used for ocular examination. CASE REPORT: We reported a case of a 60-year-old man who presented with painless partial right-eye vision loss. POCUS showed decreased flow in the right central retinal artery with an area of the pale retina seen on the image from the retinal camera, suggesting a possible branch RAO. Further examination with POCUS showed plaque formation at the carotid bifurcation, a potential cause of the patient's symptoms. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians and other providers should be encouraged to use POCUS to diagnose eye symptoms accurately and promptly. Abnormal findings will prompt immediate specialty consult and early appropriate management. Our case and other reported cases highlight POCUS's reliability and rapid diagnostic ability.


Assuntos
Sistemas Automatizados de Assistência Junto ao Leito , Testes Imediatos , Masculino , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Ultrassonografia/métodos , Cegueira/etiologia , Serviço Hospitalar de Emergência
20.
J Stroke Cerebrovasc Dis ; 33(9): 107895, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39079617

RESUMO

BACKGROUND: Visual outcomes of acute central and branch retinal artery occlusions (CRAO/BRAO) are poor and acute treatment options are limited by delayed diagnosis. In the hyper-acute setting, the ocular fundus may appear "normal", making recognition challenging, but is facilitated by retinal optical coherence tomography (OCT), which is seldom available in emergency departments (ED). We evaluated the use of non-mydriatic ocular fundus photographs (NMFP) combined with OCT to facilitate ultra-rapid remote diagnosis and stroke alert for patients with acute vision loss presenting to the ED. METHODS: Prospective evaluation of all CRAO/BRAO between 06/06/2023-06/06/2024 who had NMFP-OCT in our general ED affiliated with a stroke center. RESULTS: Over 1 year, 22 patients were diagnosed with CRAO, 4 with BRAO. Five patients presented within 4.5 hours of vision loss onset, 6 within 4.5 to ≤12 hours and 15 within >12 to 24 hours. On average, NMFP-OCT was performed within 141 minutes of presentation to the ED (range 27- 422 minutes). Diagnosis of acute RAO was made remotely with NMFP-OCT within 4.5 hours in 4 patients, 2 of whom received intravenous thrombolysis. Of the 9 patients with NMFP-OCT within 12 hours of symptom onset, 5 patients had subtle retinal whitening on color fundus photograph, but all had OCT inner retinal hyper-reflectivity/edema. CONCLUSION: Implementation of NMFP-OCT in a general ED enables rapid remote diagnosis of CRAO/BRAO and facilitates initiation of an eye stroke protocol in acute patients. OCT complements color fundus photography and provides greater diagnostic accuracy in hyperacute cases with near-normal appearing ocular fundi.


Assuntos
Serviço Hospitalar de Emergência , Valor Preditivo dos Testes , Oclusão da Artéria Retiniana , Tomografia de Coerência Óptica , Humanos , Estudos Prospectivos , Masculino , Feminino , Idoso , Fatores de Tempo , Pessoa de Meia-Idade , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/diagnóstico por imagem , Oclusão da Artéria Retiniana/terapia , Idoso de 80 Anos ou mais , Fotografação , Protocolos Clínicos
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