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Retinal Dystrophies

Known as: Retinal dystrophy, dystrophies retinal, Retinal Dystrophies [Disease/Finding] 
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA… 
National Institutes of Health

Related topics

Related topics

25 relations
Arima syndromeBARDET-BIEDL SYNDROME 10BARDET-BIEDL SYNDROME 18BARDET-BIEDL SYNDROME 6

Narrower (6)

Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic HypogonadismDystrophies primarily involving Bruch's membraneFundus AlbipunctatusGhose Sachdev Kumar syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
PURPOSE Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are genetically heterogeneous, with 11… 
Review
2005
Review
2005
Advances in the molecular understanding of canine retinal diseases.
Retinal dystrophies are a common cause of blindness in purebred dogs. Progressive retinal atrophy, the canine equivalent of… 
2000
2000
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
PURPOSE We have been engaged in an ongoing study to screen candidate genes for mutations in small families with various forms of… 
Review
1998
Review
1998
Animal models of human retinal dystrophies
Naturally occurring retinal dystrophies in laboratory and companion animals represent a wealth of different conditions, some of… 
Highly Cited
1991
Highly Cited
1991
Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.
Deletion of 18q211 was observed in a mentally retarded young man with electrophysiologically demonstrated cone-rod dystrophy… 
1987
1987
PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.
Highly Cited
1984
Highly Cited
1984
Assessment of possible transneuronal changes in the retina of rats with inherited retinal dystrophy: Cell size, number, synapses, and axonal transport by retinal ganglion cells
In pigmented RCS rats with inherited retinal dystrophy, most photoreceptor cells disappear between postnatal days 20 and 100. We… 
1978
1978
Localization of lysosomal enzymes in retinal pigment epithelium of rats with inherited retinal dystrophy.
Four acid hydrolase activities are demonstrable by light microscopy in pigment epithelial cell lysosomes of rats (Royal College… 
1971
1971
Investigation into the structural integrity of lysosomes in the normal and dystrophic rat retina.
1970
1970
Biochemistry of retinal dystrophy.
The study of progressive hereditary degeneration of the 
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