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About 26 results

ALLMedicine™ Adult-onset Vitelliform Macular Dystrophy Center

Research & Reviews  13 results

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 18th, 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 15th, 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 9th, 2018 - To report a case of adult-onset vitelliform macular dystrophy in a patient who was found to have a previously unreported variant of the IMPG2 gene. Case report. A 65-year-old white woman with no significant medical or ocular history presented with...

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 5th, 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...

Adult-onset vitelliform macular dystrophy
https://rarediseases.info.nih.gov/diseases/10909/adult-onset-vitelliform-macular-dystrophy

Mar 7th, 2016 - Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pi...

see more →

Clinicaltrials.gov  13 results

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 18th, 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 15th, 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 9th, 2018 - To report a case of adult-onset vitelliform macular dystrophy in a patient who was found to have a previously unreported variant of the IMPG2 gene. Case report. A 65-year-old white woman with no significant medical or ocular history presented with...

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 5th, 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...

Adult-onset vitelliform macular dystrophy
https://rarediseases.info.nih.gov/diseases/10909/adult-onset-vitelliform-macular-dystrophy

Mar 7th, 2016 - Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pi...

see more →