Cargando…

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

PURPOSE: The clinical features of autoimmune retinopathy (AIR) can resemble and be difficult to differentiate from inherited retinal degenerations (IRDs). Misdiagnosis of an IRD as AIR causes unnecessary treatment with immunosuppressive agents. The purpose of this study is to calculate the predictiv...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stanwyck, Lynn K., Place, Emily M., Comander, Jason, Huckfeldt, Rachel M., Sobrin, Lucia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523031/ https://www.ncbi.nlm.nih.gov/pubmed/31193260 http://dx.doi.org/10.1016/j.ajoc.2019.100461

Ejemplares similares

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa
por: Ballios, Brian G., et al.
Publicado: (2021)

Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy
por: Stanwyck, Lynn K., et al.
Publicado: (2020)

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker
por: Comander, Jason, et al.
Publicado: (2023)

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum
por: Huckfeldt, Rachel M., et al.
Publicado: (2020)

Structure-based network analysis predicts mutations associated with inherited retinal disease
por: Hauser, Blake M., et al.
Publicado: (2023)

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
por: Zampaglione, Erin, et al.
Publicado: (2020)

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa
por: Bujakowska, Kinga M., et al.
Publicado: (2015)

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY
por: Raparia, Eva, et al.
Publicado: (2023)

RNA-based therapies in inherited retinal diseases
por: Girach, Aniz, et al.
Publicado: (2022)

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa
por: Comander, Jason, et al.
Publicado: (2017)

Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy
por: Hollingsworth, T. J., et al.
Publicado: (2020)

Atypical herpes simplex virus type 2 acute retinal necrosis presentation with large subretinal lesion
por: Wang, Daniel, et al.
Publicado: (2019)

Longitudinal Validation of Hemoglobin A(1c) Criteria for Diabetes Diagnosis: Risk of Retinopathy
por: Sobrin, Lucia
Publicado: (2012)

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach
por: Wan, Aliete, et al.
Publicado: (2019)

Limited Clinical Value of Anti-Retinal Antibody Titers and Numbers in Autoimmune Retinopathy
por: Rujkorakarn, Ploysai, et al.
Publicado: (2023)

Purtscher-like retinopathy following a bowel movement
por: Sokol, Jared T., et al.
Publicado: (2022)

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA
por: Men, Clara J., et al.
Publicado: (2017)

Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy
por: Adamus, Grazyna, et al.
Publicado: (2004)

Intravitreal triamcinolone for cancer-associated retinopathy refractory to systemic therapy
por: Huynh, Nancy, et al.
Publicado: (2012)

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration
por: Jamshidi, Farzad, et al.
Publicado: (2018)

Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations
por: Bujakowska, Kinga M., et al.
Publicado: (2016)

Successful treatment of idiopathic retinal vasculitis with rituximab in two patients
por: Apivatthakakul, Atitaya, et al.
Publicado: (2023)

Are Anti-Retinal Autoantibodies a Cause or a Consequence of Retinal Degeneration in Autoimmune Retinopathies?
por: Adamus, Grazyna
Publicado: (2018)

Expanding the phenotypic spectrum in RDH12-associated retinal disease
por: Scott, Hilary A., et al.
Publicado: (2020)

Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy
por: Huryn, Laryssa A., et al.
Publicado: (2023)

Inherited Retinal Diseases
por: Ben-Yosef, Tamar
Publicado: (2022)

Retinal imaging in inherited retinal diseases
por: Georgiou, Michalis, et al.
Publicado: (2020)

Diversity in autoimmunity against retinal, neuronal, and axonal antigens in acquired neuro-retinopathy
por: Adamus, Grazyna, et al.
Publicado: (2011)

Suspect inheritance: potential neurotoxicants passed to fetuses.
por: Washam, C
Publicado: (2003)

Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis
por: Davoudi, Samaneh, et al.
Publicado: (2018)

NOD2 genetic variants and sarcoidosis-associated uveitis()
por: Davoudi, Samaneh, et al.
Publicado: (2016)

Diabetic Retinopathy: A Position Statement by the American Diabetes Association
por: Solomon, Sharon D., et al.
Publicado: (2017)

Adaptive optics imaging of inherited retinal diseases
por: Georgiou, Michalis, et al.
Publicado: (2018)

An update on autoimmune retinopathy
por: Dutta Majumder, Parthopratim, et al.
Publicado: (2020)

INHERITED RETINAL DYSTROPHY IN THE RAT
por: Dowling, John E., et al.
Publicado: (1962)

Approach to inherited retinal diseases
por: Ratra, Dhanashree, et al.
Publicado: (2022)

Temporal Trends in the Treatment of Proliferative Diabetic Retinopathy: An AAO IRIS® Registry Analysis
por: Gong, Dan, et al.
Publicado: (2021)

Prime Editing for Inherited Retinal Diseases
por: da Costa, Bruna Lopes, et al.
Publicado: (2021)

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease
por: Lynn, Jacob, et al.
Publicado: (2022)

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing
por: Bernardis, Isabella, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_enlk9mombl6gbm9q9g0ndloesm