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Hereditary Retinal Dystrophy

Known as: Hereditary retinal dystrophies, Hereditary retinal dystrophy, unspecified 
An inherited form of retinal dystrophy.
National Institutes of Health

Papers overview

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2015
2015
Retinitis pigmentosa is a group of hereditary retinal dystrophies that normally result in photoreceptor cell death and vision… Expand
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2014
2014
PURPOSE To identify pathogenic mutations responsible for retinal dystrophies (RDs) in three unrelated Chinese families. METHODS… Expand
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Highly Cited
2012
Highly Cited
2012
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness… Expand
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2011
2011
In patients with central visual field scotomata a large part of visual cortex is not adequately stimulated. Over time this lack… Expand
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Highly Cited
2008
Highly Cited
2008
Mouse models of retinal degeneration are useful tools to study therapeutic approaches for patients affected by hereditary retinal… Expand
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2003
2003
Originally described by Theodore Leber in 1869, Leber congenital amaurosis (LCA, MIM 204000) is the most early and severe form of… Expand
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Highly Cited
2001
Highly Cited
2001
The major causes of blindness in children vary widely from region to region, being largely determined by socioeconomic… Expand
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Review
1998
Review
1998
Peripherin/RDS is a transmembrane glycoprotein expressed in vertebrate photoreceptors. It is located at the rim of the disc… Expand
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Review
1991
Review
1991
The authors present part of a study concerning inherited retinal dystrophies as recorded among the inhabitants of the Nord-Pas-de… Expand
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1987
1987
The clinical and pathological features of an early-onset autosomal dominant photoreceptor degeneration in the Abyssinian cat are… Expand
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