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Fundus Albipunctatus

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

Papers overview

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2014
2014
A novel heteroplasmic mitochondrial DNA (mtDNA) microdeletion affecting the cytochrome b gene (MT-CYB) was identified in an… Expand
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2011
2011
PURPOSE To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65… Expand
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2007
2007
AbstractX-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a… Expand
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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… Expand
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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… Expand
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Highly Cited
2000
Highly Cited
2000
PURPOSE To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether… Expand
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Highly Cited
1999
Highly Cited
1999
The metabolic pathways that produce 11-cis retinal are important for vision because this retinoid is the chromophore residing in… Expand
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1999
1999
PURPOSE Patients with fundus albipunctatus uniformly experience difficulty with vision at night. Their retinas are spotted with… Expand
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Highly Cited
1995
Highly Cited
1995
PURPOSE To compare the multifocal electroretinogram (ERG) system to conventional ganzfeld and focal ERGs obtained from patients… Expand
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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… Expand
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