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Page 1
Retinitis Pigmentosa (Non-syndromic).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:125-130. doi: 10.1007/978-3-319-95046-4_25. Adv Exp Med Biol. 2018. PMID: 30578498 Review.
Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the genes, like PDE6 (PDE6A, PDE6B, PDE6G), RP25, and RPE65, have higher prevalence, about 2-5% of all cases. Overall, autosomal recessive RP accou …
Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the gen …
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP ca
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of ro
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:161-162. doi: 10.1007/978-3-319-95046-4_30. Adv Exp Med Biol. 2018. PMID: 30578503 Review.
Premature death occurs because of cardiac conduction defects. The onset is usually before 20 years of age. The fundus shows pigmentary retinopathy, with a salt-and-pepper appearance (Fig. 30.1), but vision remains good in most patients. ...
Premature death occurs because of cardiac conduction defects. The onset is usually before 20 years of age. The fundus shows pigmentar …
X-linked Retinitis Pigmentosa.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:31-35. doi: 10.1007/978-3-319-95046-4_8. Adv Exp Med Biol. 2018. PMID: 30578481 Review.
X-linked retinitis pigmentosa (XLRP) is considered to be one of the most severe forms of retinitis pigmentosa (RP). It accounts for about 6-20% of all RP cases, including about 10% in the United States and 25% in England....
X-linked retinitis pigmentosa (XLRP) is considered to be one of the most severe forms of retinitis pigmentosa (R …
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. Adv Exp Med Biol. 2018. PMID: 30578505 Review.
Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems. Usher syndrome is the most common syndromic cause of retinitis pigmentosa (RP) and accounts for 10-20% of …
Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple o …
Leber Congenital Amaurosis.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. Adv Exp Med Biol. 2018. PMID: 30578499 Review.
The prevalence is about 1:80,000. Also known as congenital retinitis pigmentosa (RP), patients have wandering nystagmus, with reduced vision from birth. ...Patients may have normal intelligence, but some studies suggest that as many as 20% of children with LC …
The prevalence is about 1:80,000. Also known as congenital retinitis pigmentosa (RP), patients have wandering nystagmus, with …
Autosomal Dominant Retinitis Pigmentosa.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:69-77. doi: 10.1007/978-3-319-95046-4_15. Adv Exp Med Biol. 2018. PMID: 30578488 Review.
More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15-25% of ca …
More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal domin …
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Lähteenoja L, Häkli S, Tuupanen S, Kuismin O, Palosaari T, Rahikkala E, Falck A. Lähteenoja L, et al. Ophthalmic Genet. 2022 Apr;43(2):152-158. doi: 10.1080/13816810.2022.2045511. Epub 2022 Mar 3. Ophthalmic Genet. 2022. PMID: 35240912 Review.
BACKGROUND: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1261_1262delinsA, …
BACKGROUND: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we …
Sector retinitis pigmentosa: Report of ten cases and a review of the literature.
Coussa RG, Basali D, Maeda A, DeBenedictis M, Traboulsi EI. Coussa RG, et al. Mol Vis. 2019 Dec 30;25:869-889. eCollection 2019. Mol Vis. 2019. PMID: 31908405 Free PMC article. Review.
PURPOSE: To describe the genotypes and phenotypes of ten patients with sector retinitis pigmentosa (RP). We also review previously reported mutations associated with sector RP and provide a discussion of possible underlying pathophysiological mechanisms. ...The pati …
PURPOSE: To describe the genotypes and phenotypes of ten patients with sector retinitis pigmentosa (RP). We also review previo …
Molecular Strategies for RPGR Gene Therapy.
Cehajic Kapetanovic J, McClements ME, Martinez-Fernandez de la Camara C, MacLaren RE. Cehajic Kapetanovic J, et al. Genes (Basel). 2019 Sep 4;10(9):674. doi: 10.3390/genes10090674. Genes (Basel). 2019. PMID: 31487940 Free PMC article. Review.
Mutations affecting the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the commonest cause of X-linked and recessive retinitis pigmentosa (RP), accounting for 10%-20% of all cases of RP. ...
Mutations affecting the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the commonest cause of X-linked and recessive …
83 results