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Retinal Dystrophies
Known as:
Retinal dystrophy
, dystrophies retinal
, Retinal Dystrophies [Disease/Finding]
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A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA…
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National Institutes of Health
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Related topics
Related topics
25 relations
Arima syndrome
BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 6
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Narrower (6)
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Dystrophies primarily involving Bruch's membrane
Fundus Albipunctatus
Ghose Sachdev Kumar syndrome
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Effect of gene therapy on visual function in Leber's congenital amaurosis.
J. Bainbridge
,
Alexander J. Smith
,
+15 authors
R. Ali
New England Journal of Medicine
2008
Corpus ID: 17098381
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium-specific 65-kD protein…
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Review
2008
Review
2008
Leber congenital amaurosis: Genes, proteins and disease mechanisms
A. I. Hollander
,
R. Roepman
,
R. Koenekoop
,
F. Cremers
Progress in retinal and eye research
2008
Corpus ID: 30202286
Review
2007
Review
2007
Cone rod dystrophies
C. Hamel
Orphanet Journal of Rare Diseases
2007
Corpus ID: 9630937
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary…
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Highly Cited
2000
Highly Cited
2000
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
A. Gal
,
Yun Li
,
+5 authors
D. Vollrath
Nature Genetics
2000
Corpus ID: 2812292
Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis…
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Highly Cited
2000
Highly Cited
2000
Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat.
Patricia M. D’Cruz
,
D. Yasumura
,
+4 authors
D. Vollrath
Human Molecular Genetics
2000
Corpus ID: 16476387
Vertebrate photoreceptor cells are the basic sensory apparatus of the retina, capable of converting the energy of absorbed…
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Highly Cited
1999
Highly Cited
1999
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
E. Stone
,
A. Lotery
,
+13 authors
D. Schorderet
Nature Genetics
1999
Corpus ID: 5613181
Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by…
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Highly Cited
1997
Highly Cited
1997
Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
S. Gu
,
Debra Thompson
,
+8 authors
A. Gal
Nature Genetics
1997
Corpus ID: 3122835
Autosomal recessive childhood-onset severe retinal dystrophy (arCSRD) designates a heterogeneous group of disorders affecting rod…
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Highly Cited
1990
Highly Cited
1990
Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor
E. Faktorovich
,
R. H. Steinberg
,
D. Yasumura
,
M. Matthes
,
M. Lavail
Nature
1990
Corpus ID: 2076155
NUMEROUS inherited retinal degenerations exist in animals and humans, in which photoreceptors inexplicably degenerate and…
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Highly Cited
1976
Highly Cited
1976
Inherited retinal dystrophy: primary defect in pigment epithelium determined with experimental rat chimeras.
R. J. Mullen
,
M. Lavail
Science
1976
Corpus ID: 11807577
Chimeric rats were produced by the aggregation of embryos of the pinkeyed, retinal dystrophic RCS strain with those of pigmented…
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Highly Cited
1962
Highly Cited
1962
INHERITED RETINAL DYSTROPHY IN THE RAT
J. Dowling
,
R. Sidman
Journal of Cell Biology
1962
Corpus ID: 2712705
Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon…
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