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About 28 results

ALLMedicine™ Adult-onset Vitelliform Macular Dystrophy Center

Research & Reviews  11 results

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macul...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150824
Investigative Ophthalmology & Visual Science; Vázquez-Domínguez I, Li CHZ et. al.

May 25th, 2022 - Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders with approximately 270 genes involved. IMPG2 is associated with adult-onset vitelliform macular dystrophy. Here, we investigated two unrelated patients wi...

Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-...
https://doi.org/10.1080/13816810.2020.1821385
Ophthalmic Genetics; Çavdarli C, Çavdarlı B et. al.

Sep 19th, 2020 - Objective: To determine the clinical relevance and frequency of BEST1 and PRPH2 mutations in a clinically diagnosed adult-onset vitelliform macular dystrophy (AVMD) group with Caucasian ethnicity. Methods: The study comprised 24 patients who had b...

Bestrophinopathies - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/bvd/

Jul 16th, 2020 - Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macul...

ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT.
https://doi.org/10.1097/ICB.0000000000000824
Retinal Cases & Brief Reports; Shah SM, Schimmenti LA et. al.

Oct 10th, 2018 - To explore the expression and clinical significance of chemokine CXCL10 and CXCR3 in hepatocellular carcinoma (HCC). The expression and prognostic of CXCL10 and CXCR3 in HCC tumor tissues and non-tumor tissues were analyzed in two different public...

Bestrophin 1 and retinal disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600499
Progress in Retinal and Eye Research; Johnson AA, Guziewicz KE et. al.

Feb 6th, 2017 - Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the "bestrophinopathies". These five associated diseases are: Best vitelliform macula...

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