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Vitreoretinochoroidopathy dominant

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Vitreoretinochoroidopathy dominant" returned 0 free, full-text review articles. First 0 results:
Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Last Updated: Jul 04, 2019

A family composed of 13 affected members in five generations (10 patients from four generations examined) had vitreal and ophthalmoscopic findings characteristic of autosomal dominant vitreoretinochoroidopathy, as described in two previous kindreds. Visual acuity was 20/25 or better ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Vitreoretinochoroidopathy dominant" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Vitreoretinochoroidopathy dominant" returned 2 free, full-text research articles. First 2 results:
A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.
Last Updated: Apr 12, 2019

To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr.

Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
Last Updated: Nov 16, 2017

Mutations in BEST1 account for autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare inherited retinal dystrophy with presenile cataracts and incomplete anterior segment development. The long-term clinical findings and visual prognosis of these patients continues to evolve over time.

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