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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
Highly Cited
2011
Highly Cited
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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Highly Cited
2007
Highly Cited
2007
AbstractX-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a… Expand
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Review
2004
Review
2004
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized… Expand
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Review
2000
Review
2000
  • T. Dryja
  • American journal of ophthalmology
  • 2000
  • Corpus ID: 38102282
PURPOSE To compare the clinical findings of the various forms of stationary night blindness caused by mutations in identified… Expand
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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Highly Cited
1999
Highly Cited
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