Fundus Albipunctatus

Known as: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinal pigmentary dystrophy 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1965-2016
02419652016

Papers overview

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2008
2008
We report a case of an 11-year old Caucasian female with nyctalopia since early childhood with an atypical clinical presentation… (More)
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2007
2007
We report a case study of Fundus Albipunctatus (FA) due to compound heterozygous mutations in RDH5, the gene encoding for the 11… (More)
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2005
2005
PURPOSE A prior study showed that some patients with fundus albipunctatus (FA) have severely reduced full-field cone ERGs. The… (More)
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2003
2003
PURPOSE To report a Japanese family with fundus albipunctatus and macular dystrophy associated with a mutation in the 11-cis… (More)
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2002
2002
PURPOSE To report a 9-year-old boy with fundus albipunctatus and macular dystrophy. DESIGN Observational case report. METHODS… (More)
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Highly Cited
2001
Highly Cited
2001
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include… (More)
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2001
2001
OBJECTIVE To assess the clinical and genetic characteristics of a Japanese family with fundus albipunctatus with progressive cone… (More)
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1999
1999
PURPOSE Patients with fundus albipunctatus uniformly experience difficulty with vision at night. Their retinas are spotted with… (More)
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1992
1992
We describe five unrelated patients in whom the typical signs of fundus albipunctatus were accompanied by colour vision defects… (More)
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1990
1990
Fundus albipunctatus (FA) is considered to be a congenital stationary night-blinding disorder, but there has been no… (More)
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