Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood
MN Preising, C Pasquay, C Friedburg… - Klinische …, 2012 - europepmc.org
MN Preising, C Pasquay, C Friedburg, W Bowl, M Jäger, M Andrassi-Darida, B Lorenz
Klinische Monatsblatter fur Augenheilkunde, 2012•europepmc.orgBackground Autosomal recessive bestrophinopathy (ARB) is associated with mutations in
BEST1. ARB is rarely diagnosed compared to BEST1-associated autosomal dominant (ad)
juvenile vitelliform macular degeneration (Morbus Best, VMD). This is not only due to its low
prevalence, but also to the phenotypic appearance. This paper describes typical features in
two patients and discusses novel findings using improved ophthalmological diagnostic tools.
BEST1. ARB is rarely diagnosed compared to BEST1-associated autosomal dominant (ad)
juvenile vitelliform macular degeneration (Morbus Best, VMD). This is not only due to its low
prevalence, but also to the phenotypic appearance. This paper describes typical features in
two patients and discusses novel findings using improved ophthalmological diagnostic tools.
Background
Autosomal recessive bestrophinopathy (ARB) is associated with mutations in BEST1. ARB is rarely diagnosed compared to BEST1-associated autosomal dominant (ad) juvenile vitelliform macular degeneration (Morbus Best, VMD). This is not only due to its low prevalence, but also to the phenotypic appearance. This paper describes typical features in two patients and discusses novel findings using improved ophthalmological diagnostic tools.
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