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Retinitis Pigmentosa

Known as: Tapetoretinal degeneration, Pigmentary Retinopathies, Pigmentary retinopathy 
A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is… 
National Institutes of Health

Related topics

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Narrower (20)

Aldred syndromeBork Stender Schmidt syndromeCONE DYSTROPHY 4 (disorder)CONE-ROD DYSTROPHY 3 (disorder)
BARDET-BIEDL SYNDROME 13BARDET-BIEDL SYNDROME 16BARDET-BIEDL SYNDROME 8BARDET-BIEDL SYNDROME 9

Broader (1)

Retinal Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2002
Highly Cited
2002
Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa.
PURPOSE The objective of the present study was to evaluate the therapeutic efficacy of ciliary neurotrophic factor (CNTF… 
Highly Cited
2002
Highly Cited
2002
A Rhodopsin Mutant Linked to Autosomal Dominant Retinitis Pigmentosa Is Prone to Aggregate and Interacts with the Ubiquitin Proteasome System*
The inherited retinal degenerations are typified by retinitis pigmentosa (RP), a heterogeneous group of inherited disorders that… 
Highly Cited
2001
Highly Cited
2001
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated "RP12" and… 
Highly Cited
2001
Highly Cited
2001
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive degeneration of the peripheral… 
Highly Cited
2000
Highly Cited
2000
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10–20% of patients with the… 
Highly Cited
2000
Highly Cited
2000
A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).
The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence… 
Highly Cited
1997
Highly Cited
1997
Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa
Patients with retinitis pigmentosa (RP) typically develop night blindness early in life due to loss of rod photoreceptors. The… 
Highly Cited
1996
Highly Cited
1996
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)
X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the… 
Highly Cited
1990
Highly Cited
1990
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
BACKGROUND Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision… 
Highly Cited
1985
Highly Cited
1985
Induction by cyclic GMP of cationic conductance in plasma membrane of retinal rod outer segment
Vertebrate rod photoreceptors hyperpolarize when illuminated, due to the closing of cation-selective channels in the plasma… 
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