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Vitelliform macular dystrophy 1
- ... sharp central vision.Most BEST1 mutations involved in vitelliform macular dystrophy change single protein building blocks (amino acids) in bestrophin-1. The altered protein probably forms an abnormally shaped ...
- ... are responsible for some cases of adult-onset vitelliform macular dystrophy. Several mutations have been identified in people with ... retinal abnormalities and progressive vision loss characteristic of vitelliform macular dystrophy. It is unclear why PRPH2 mutations affect only ...
