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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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Review
2015
Review
2015
Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence… 
2014
2014
A novel heteroplasmic mitochondrial DNA (mtDNA) microdeletion affecting the cytochrome b gene (MT‐CYB) was identified in an… 
2010
2010
Purpose: Fundus albipunctatus is a form of congenital stationary night blindness characterized by an early onset and… 
Highly Cited
2007
Highly Cited
2007
AbstractX-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a… 
Review
2004
Review
2004
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized… 
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… 
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… 
Highly Cited
1999
Highly Cited
1999
PURPOSE Patients with fundus albipunctatus uniformly experience difficulty with vision at night. Their retinas are spotted with… 
Highly Cited
1995
Highly Cited
1995
PURPOSE To compare the multifocal electroretinogram (ERG) system to conventional ganzfeld and focal ERGs obtained from patients…