61 results match your criteria: "Cancer Associated and Related Autoimmune Retinopathies"
Pediatric autoimmune retinopathy and optic neuropathy: a case report and a review of the literature.
Front Ophthalmol (Lausanne)
December 2023
Abrahamson Pediatric Eye Institute, Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Article Synopsis
- The study presents a rare case of pediatric bilateral optic neuropathy and retinopathy linked to autoimmune retinopathy, along with a review of existing literature on similar pediatric cases.* -
- It involves a case report of one original subject and data from five others identified in recent literature, utilizing various diagnostic methods such as imaging, electrophysiologic testing, and autoantibody testing.* -
- Results showed that all subjects had retinal abnormalities, with optic nerve issues in most; three subjects had abnormal electrophysiologic test results, and four exhibited underlying neoplastic disorders.*
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Nat Commun
June 2024
Division of Rheumatology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Article Synopsis
- Age-related microangiopathy (SVD) damages small blood vessels leading to problems in the brain, retina, liver, and kidneys, and is linked to DNA damage as part of the aging process.
- Variants of the TREX1 protein, which play a crucial role in DNA repair, are associated with retinal vasculopathy with cerebral leukoencephalopathy (RVCL), causing improper localization within cells and potential DNA damage.
- Research shows that these TREX1 variants increase vulnerability to DNA damage and are connected to early-onset breast cancer, highlighting a link between abnormal TREX1 activity, aging-related DNA damage, and microvascular disease.
Case Report of Seronegative Cancer-Associated Retinopathy in a Patient with Small Cell Lung Carcinoma.
Case Rep Oncol
September 2023
Medical Oncology, Blue Ridge Cancer Care, Roanoke, VA, USA.
Article Synopsis
- Cancer-associated retinopathy (CAR) is a rare autoimmune condition linked to several cancers, especially small cell lung carcinoma (SCLC), where the body's immune system attacks photoreceptor cells in the retina.
- A 66-year-old female with a history of smoking and age-related macular degeneration presented with worsening vision and was diagnosed with limited stage SCLC after imaging and biopsy, despite negative antibody tests for anti-recoverin.
- Although she responded well to chemotherapy, her ocular symptoms did not improve with various treatments, highlighting the challenge of diagnosing CAR in patients with existing eye conditions and the need for clinicians to consider paraneoplastic syndromes in similar cases.
Pigmentary retinopathy associated with immune therapy for advanced cutaneous melanoma.
Am J Ophthalmol Case Rep
June 2023
Shiley Eye Institute, University of California, San Diego, La Jolla, CA, 92093, USA.
Article Synopsis
- A case study describes a 69-year-old man with advanced melanoma who experienced retinal changes after receiving immune checkpoint inhibitor therapy (ICIT) with nivolumab and ipilimumab.
- The patient developed visual symptoms, including photopsias and night blindness, and found distinct retinal pigmentary changes, along with decreased visual fields and abnormal electroretinogram results.
- The findings suggest that these retinal changes might be due to an autoimmune inflammatory response triggered by ICIT, highlighting rare but serious side effects associated with this treatment.
Ferroptosis: mechanisms and advances in ocular diseases.
Mol Cell Biochem
September 2023
Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China.
Article Synopsis
- - Iron is a crucial element for metabolism in the body, but excessive levels can lead to reactive oxygen species that damage cells and tissues, potentially causing a form of cell death known as ferroptosis.
- - Ferroptosis is marked by high iron levels, increased lipid peroxides, and low antioxidant defenses, and is linked to various health issues, including cancers and neurodegenerative disorders.
- - Recent research has established connections between ferroptosis and several eye diseases, highlighting the need for more studies to address unresolved questions that could help develop better treatments for not just eye ailments but also other diseases.
Prevalence and associated relating factors in patients with hereditary retinal dystrophy: a nationwide population-based study in Taiwan.
BMJ Open
April 2022
Department of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan
Article Synopsis
- The study aimed to explore the prevalence and incidence of hereditary retinal dystrophy (HRD) in Taiwan between 2000-2013, using a retrospective analysis of the National Health Insurance Database with a total of 2,418 subjects.
- Results showed that the incidence of HRD was 3.29 per 100,000 people, and the prevalence was 40.5 per 100,000, with higher occurrences of cataracts and cystoid macular edema (CME) in HRD patients compared to controls.
- The findings indicated that 74% of HRD cases are retinitis pigmentosa, highlighting a significant association between HRD and comorbid conditions like hypertension and diabetes, particularly in patients aged
Cancer-associated retinopathy after anti-programmed death 1 (PD-1) antibody for treating hepatocellular carcinoma--a case report of a Chinese patient.
Am J Ophthalmol Case Rep
March 2022
Department of Ophthalmology, Eye Ear Nose and Throat Hospital, Fudan University, Shanghai, 200031, China.
Article Synopsis
- A 57-year-old Chinese man with hepatocellular carcinoma experienced acute constriction of his visual fields after receiving nivolumab, an immune checkpoint inhibitor treatment.
- The diagnosis of cancer-associated retinopathy was confirmed through multiple tests, including optical coherence tomography and positive anti-recoverin antibodies.
- This case highlights that visual disturbances, like cancer-associated retinopathy, uveitis, and optic neuropathy, can occur as complications of anti-PD-1 therapy in cancer patients.
Anti-Programmed Death Ligand-1 Induced Acute Vision Loss in a Patient With Cancer-Associated Retinopathy.
Cureus
January 2022
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, USA.
Article Synopsis
- Cancer-associated retinopathy (CAR) is an eye disease linked to autoimmune responses triggered by cancer, which can be confused with side effects of immune checkpoint inhibitors (ICIs) used in cancer treatment.
- A 75-year-old man experienced severe vision loss due to CAR after starting atezolizumab for small-cell lung cancer, with symptoms indicating retinal dysfunction.
- Following treatment adjustments, including the use of corticosteroids, the patient saw improvements in vision, highlighting the importance of assessing retinal autoantibodies in cancer patients at risk for CAR before starting ICI therapy.
Autoimmune retinopathy with associated anti-retinal antibodies as a potential immune-related adverse event associated with immunotherapy in patients with advanced cutaneous melanoma: case series and systematic review.
BMJ Open Ophthalmol
April 2022
Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, Connecticut, USA.
Article Synopsis
- The study examines autoimmune retinopathy (AIR) cases linked to immunotherapy in patients with advanced cutaneous melanoma, highlighting the spectrum of symptoms and outcomes.
- A review of three case studies showed different visual issues arising shortly after starting immunotherapy, alongside confirmed anti-retinal antibodies.
- The findings emphasize the importance of regular monitoring for visual symptoms in melanoma patients undergoing immunotherapy, due to the risk of developing AIR.
Cancer-Associated Retinopathy in Patients with Newly Diagnosed Breast Tumor.
Noro Psikiyatr Ars
November 2021
Department of General Surgery, Health Sciences University, Haydarpaşa Numune Education and Research Hospital, İstanbul, Turkey.
Article Synopsis
- Paraneoplastic neurological syndromes (PNS) are rare neurological conditions often caused by autoimmune responses, and this study investigates the correlation between histopathological findings and onconeural antibodies in breast cancer patients, specifically focusing on cancer-related retinopathies (CAR).
- The research included 32 newly diagnosed breast cancer patients without visual complaints, examining them neurologically and testing their blood for onconeural antibodies, with samples analyzed at İstanbul University Experimental Medicine Research Institute.
- Results showed a significant association between high-grade tumors and the presence of onconeural antibodies, suggesting that these antibodies could serve as potential biomarkers for the early diagnosis and treatment of associated cancers.
Astrocytic outer retinal layer thinning is not a feature in AQP4-IgG seropositive neuromyelitis optica spectrum disorders.
J Neurol Neurosurg Psychiatry
February 2022
Experimental and Clinical Research Center, Max Delbrück Center for Molecular Medicine and Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Article Synopsis
- Patients with AQP4-IgG+ neuromyelitis optica spectrum disorders (NMOSDs) often experience optic neuritis, leading to retinal nerve damage, but the link between this damage and primary astrocytopathy is unclear.
- This study compared retinal layer changes among 197 AQP4-IgG+ patients, 32 MOG-IgG+ patients, and 75 healthy controls using optical coherence tomography (OCT) and found no significant thinning in the outer retinal layers of AQP4-IgG+ patients.
- The research indicates that outer retinal damage may not be a consistent outcome of retinal astrocytic injury in AQP4-IgG+ NMOSD, suggesting the need
Paraneoplastic ocular syndrome: a pandora's box of underlying malignancies.
Eye (Lond)
July 2022
Department of Ophthalmology, Deen Dayal Upadhyay Hospital, New Delhi, India.
Article Synopsis
- Paraneoplastic syndromes in the visual system are conditions that occur in patients with systemic cancers, leading to specific eye-related symptoms.
- This review provides a thorough overview of existing literature, covering clinical features, causes, and treatment options for these eye syndromes, highlighting the challenge in distinguishing them from similar non-cancerous disorders.
- The research involved a systematic search of multiple academic databases for studies published from 1995 to early 2020, focusing on various subtypes of paraneoplastic ocular syndromes and including both recent and some older references deemed significant.
Tumors, tumor therapies, autoimmunity and the eye.
Autoimmun Rev
September 2021
Department of Ophthalmology, University Hospital, LMU Munich, Mathildenstr. 8, 80336 Munich, Germany. Electronic address:
Article Synopsis
- - The eye is considered an immune privileged organ, which typically helps it avoid autoimmune attacks, making conditions like autoimmune uveitis rare.
- - However, certain tumor-related autoimmune responses can still occur, such as cancer-associated retinopathy (CAR), where the body mistakenly destroys retinal cells due to the expression of eye-related proteins by tumors.
- - New cancer treatments targeting immune checkpoints and signal transduction (like MEK/BRAF inhibitors) can inadvertently trigger autoimmune effects in the eye, harming non-dividing retinal cells and making them vulnerable to immune attacks.
Novel EDGE encoding method enhances ability to identify genetic interactions.
PLoS Genet
June 2021
Department of Genetics, Institute for Biomedical Informatics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Article Synopsis
- The genetic encoding of single nucleotide polymorphisms (SNPs) typically relies on traditional models (additive, dominant, recessive), but these may not accurately represent all SNPs, leading to a high multiple testing burden.
- The novel elastic data-driven genetic encoding (EDGE) assigns heterozygous values to SNPs based on the specific model they demonstrate in a given dataset, showing superior power to detect genetic interactions with lower false-positive rates compared to traditional methods.
- In analyses of genetic data from various phenotypes, EDGE successfully identified novel SNP-SNP interactions (e.g., for age-related cataract) that were missed by traditional encodings, suggesting its effectiveness in genetic studies.
Clinical Utility of Antiretinal Antibody Testing.
JAMA Ophthalmol
June 2021
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
Article Synopsis
- Most current testing for antiretinal antibodies lacks clear clinical utility, even though they are part of autoimmune retinopathy diagnosis criteria.
- In a study involving 14 patients without autoimmune retinopathy, 93% tested positive for retinal antibodies, but this result shows a low specificity of only 7%.
- The findings suggest that the presence of retinal antibodies in patients without autoimmune conditions may not be clinically relevant, highlighting the need for more reliable testing methods.
Voltage-Gated Calcium Channel Antibody-Induced Oropharyngeal Dysphagia Presenting as a Paraneoplastic Neurological Complication in Breast Cancer.
Cureus
March 2021
Hematology/Oncology, Magee Women's Hospital, University of Pittsburgh Medical Center, Pittsburgh, USA.
Article Synopsis
- - Paraneoplastic neurologic syndromes (PNS) occur when the immune system mistakenly attacks the nervous system due to a connection between cancerous tissue and normal neural tissue, often seen in cancers like small cell lung cancer and breast cancer.
- - A case study highlights a 67-year-old woman with breast cancer who developed severe swallowing difficulties (oropharyngeal dysphagia) as a result of PNS, specifically linked to an antibody against voltage-gated calcium channels.
- - Despite a diagnosis of invasive ductal carcinoma and initial localized treatment, the woman declined further therapy and, three years later, passed away due to her illness accompanied by neurological complications.
Melanoma-associated retinopathy during pembrolizumab treatment probably controlled by intravitreal injections of dexamethasone.
Doc Ophthalmol
April 2021
Department of Dermatology, Montpellier University Hospital and Montpellier University, Hôpital Saint Eloi - CHRU de MONTPELLIER, 80, avenue Augustin Fliche, 34295, Montpellier Cedex 5, France.
Article Synopsis
- Melanoma-associated retinopathy (MAR) is a rare syndrome linked to melanoma, where antibodies affect retinal cells, and its effects alongside immune checkpoint inhibitors (ICIs) like pembrolizumab are not well understood.
- A 68-year-old woman with worsening vision and metastatic melanoma was diagnosed with MAR, initially treated with corticosteroids and later with ICIs after surgery.
- Remarkably, her retinal function improved while receiving ICI, suggesting that intravitreal corticosteroid therapy may help mitigate the adverse effects of immunotherapy in MAR patients.
Neurologic autoimmunity and immune checkpoint inhibitors: Autoantibody profiles and outcomes.
Neurology
October 2020
From the Departments of Neurology (E.S., A.M., D.D., T.L., V.A.L., C.J.K., M.M., S.J.P., E.P.F., A.Z.), Oncology (S.N.M.), Laboratory Medicine and Pathology (A.M., D.D., V.A.L., S.J.P., E.P.F., A.Z.), and Immunology (V.A.L.), Mayo Clinic, Rochester, MN; and Department of Neurology (A.S.L.-C.), Mayo Clinic, Jacksonville, FL.
Article Synopsis
- The study investigates the profiles of neural autoantibodies in patients with neurologic autoimmunity triggered by immune checkpoint inhibitors (ICIs) used in cancer treatment.
- Out of 63 patients analyzed, various neurological symptoms were observed, particularly in those with CNS involvement, and certain autoantibodies were identified in both known and unknown contexts.
- The findings suggest that older age is a significant predictor of poor outcomes in patients experiencing neurologic complications from ICI therapy; about 36% of patients faced severe lasting effects, especially those aged 70 and above.
Melanoma-associated retinopathy.
Clin Exp Dermatol
March 2020
Birmingham Neuro-Ophthalmology, Queen Elizabeth Hospital, University Hospitals Birmingham, Birmingham, UK.
Article Synopsis
- Melanoma-associated retinopathy (MAR) is a rare autoimmune response related to skin melanoma, leading to vision issues like night blindness and visual field defects.
- Symptoms often lead to a decreased quality of life, and MAR can sometimes signal the presence of malignant melanoma even before it's officially diagnosed.
- The article aims to increase awareness of MAR and shares recent findings on how to investigate and manage this condition effectively.
Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retina.
Hum Mol Genet
October 2019
Ophthalmic Genetics and Visual Function Branch, Section on Epithelial and Retinal Physiology and Disease, National Eye Institute, National Institutes of Health, Bethesda, MD USA.
Article Synopsis
- MicroRNA-204 (miR-204) plays a crucial role in various tissues, and its absence leads to diseases, including retinal and pigment epithelial dysfunction.
- Experiments using miR-204-/- mice show that loss of miR-204 causes issues like defective photoreceptor digestion and increased microglial activity, impacting retinal health.
- Both in vivo and in vitro studies highlight that miR-204 helps regulate autophagy and maintain cellular integrity, suggesting its importance in preventing oxidative stress and inflammation in the retinal pigment epithelium.
Pathological Implications of Receptor for Advanced Glycation End-Product () Gene Polymorphism.
Dis Markers
July 2019
CHU Clermont-Ferrand, Department of Medical Biochemistry and Molecular Biology, 63000 Clermont-Ferrand, France.
Article Synopsis
- RAGE is a cell surface receptor implicated in various diseases due to its role in proinflammatory pathways and its high genetic variability through polymorphisms.
- The review discusses five specific polymorphisms (SNPs), outlining their potential associations with diseases such as autoimmune disorders, diabetes complications, and cancers.
- The conflicting findings regarding these SNPs in different populations may be influenced by ethnic differences in their frequencies.
Exceptional response and multisystem autoimmune-like toxicities associated with the same T cell clone in a patient with uveal melanoma treated with immune checkpoint inhibitors.
J Immunother Cancer
March 2019
Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, 3970 Reservoir Rd NW, New Research Building Suite E 501, Washington, DC, 20057, USA.
Article Synopsis
- - The use of immune checkpoint inhibitors (ICI) in treating cancers presents a challenge due to the balance between achieving long-lasting remissions and managing autoimmune-like side effects.
- - A specific case involved a patient with widespread uveal melanoma who responded remarkably to ipilimumab and nivolumab but suffered serious side effects, including vision issues and gastrointestinal problems.
- - TCR-sequencing revealed that the same T cell clone was present in the primary tumor, a metastasis, and other body tissues, suggesting that cross-reactivity may explain the connection between the effectiveness and toxicity of ICIs.
Controlled release of corticosteroid with biodegradable nanoparticles for treating experimental autoimmune uveitis.
J Control Release
February 2019
Department of Ophthalmology, The Johns Hopkins University School of Medicine, 400 North Broadway, Baltimore, MD 21231, USA; Center for Nanomedicine, Wilmer Eye Institute, The Johns Hopkins University School of Medicine, 400 North Broadway, Baltimore, MD 21231, USA; Department of Chemical and Biomolecular Engineering, The Johns Hopkins University, 3400 North Charles Street, Baltimore, MD 21218, USA; Department of Biomedical Engineering, The Johns Hopkins University, Baltimore, MD 21231, USA; Departments of Oncology, Neurosurgery, and Pharmacology & Molecular Sciences, The Johns Hopkins University, Baltimore, MD 21231, USA. Electronic address:
Article Synopsis
- - Noninfectious uveitis can lead to severe eye complications and often requires corticosteroid treatment, with severe cases needing a mix of topical and systemic medications to manage inflammation.
- - Current methods for corticosteroid delivery include intravitreal injections, which can carry serious risks, and subconjunctival injections, with the latter using dexamethasone sodium phosphate (DSP) for better eye penetration.
- - Researchers developed a biodegradable nanoparticle (DSP-Zn-NP) that effectively delivers DSP via subconjunctival injection, showing promising results in reducing inflammation in a rat model of uveitis while maintaining drug levels in the eye for at least three weeks.
Cancer-associated retinopathy preceding the diagnosis of cancer.
BMC Ophthalmol
November 2018
Department of Ophthalmology, National Referral Center for rare Ocular Diseases, Hôpital Cochin, APHP, Université Paris Descartes, Paris, France.
Article Synopsis
- Early diagnosis of cancer is crucial, and cancer-associated retinopathy (CAR) can signal the presence of malignancies before other symptoms appear, indicating the need for further investigation.
- A study examined four patients diagnosed with CAR, revealing significant visual impairments and leading to the identification of previously unknown cancers, including small cell lung tumors and prostate carcinoma.
- Treatment for CAR involved various medications, which resolved intraocular inflammation, though patients continued to exhibit long-term retinal damage during follow-up.
Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases.
Adv Exp Med Biol
May 2019
Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
Age-related macular degeneration (AMD) is a complex disease with both environmental and genetic factors influencing disease risk. Genome-wide case-control association studies, candidate gene analyses, and epidemiological studies reinforced the notion that AMD is predominantly a disease of an impaired complement system and an altered high-density lipoprotein (HDL) metabolism. Recent reports demonstrated the pleiotropic role of the complement system and HDL in complex diseases such as cardiovascular disease, autoimmune disorders, cancer, and Alzheimer's disease.
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