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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. ...Clinically, it shows all the class …
Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the gen …
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK. Assi L, et al. JAMA Ophthalmol. 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. JAMA Ophthalmol. 2021. PMID: 33576772 Free PMC article. Review.
FINDINGS: Nine systematic reviews evaluated the association between quality of life and vision impairment, age-related macular degeneration, glaucoma, diabetic retinopathy, or mendelian eye conditions (including retinitis pigmentosa). Of these, 5 were reviews of qua …
FINDINGS: Nine systematic reviews evaluated the association between quality of life and vision impairment, age-related macular degeneration, …
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 …
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
More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal domin …
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives.
Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ. Dias MF, et al. Prog Retin Eye Res. 2018 Mar;63:107-131. doi: 10.1016/j.preteyeres.2017.10.004. Epub 2017 Oct 31. Prog Retin Eye Res. 2018. PMID: 29097191 Review.
Retinitis Pigmentosa (RP) is a hereditary retinopathy that affects about 2.5 million people worldwide. ...
Retinitis Pigmentosa (RP) is a hereditary retinopathy that affects about 2.5 million people worldwide. ...
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. ...
PURPOSE: To describe the genotypes and phenotypes of ten patients with sector retinitis pigmentosa (RP). We also review previo …
Rhodopsin-mediated retinitis pigmentosa.
Malanson KM, Lem J. Malanson KM, et al. Prog Mol Biol Transl Sci. 2009;88:1-31. doi: 10.1016/S1877-1173(09)88001-0. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374723 Review.
Retinitis pigmentosa (RP) is a genetically and phenotypically heterogeneous group of diseases that cause blindness. Mutations within the rhodopsin gene account for approximately 25% of autosomal dominantly inherited RP cases. Therefore, understanding the mech
Retinitis pigmentosa (RP) is a genetically and phenotypically heterogeneous group of diseases that cause blindness. Mutations
Gene therapy for ocular diseases.
Liu MM, Tuo J, Chan CC. Liu MM, et al. Br J Ophthalmol. 2011 May;95(5):604-12. doi: 10.1136/bjo.2009.174912. Epub 2010 Aug 23. Br J Ophthalmol. 2011. PMID: 20733027 Free PMC article. Review.
Gene therapy prospects have advanced for a variety of retinal disorders, including retinitis pigmentosa, retinoschisis, Stargardt disease and age-related macular degeneration. ...
Gene therapy prospects have advanced for a variety of retinal disorders, including retinitis pigmentosa, retinoschisis, Starga …
The ring 14 syndrome.
Zollino M, Ponzi E, Gobbi G, Neri G. Zollino M, et al. Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14. Eur J Med Genet. 2012. PMID: 22564756 Review.
Clinically, the ring 14 syndrome is characterized by a recognizable phenotype of shortness of stature, distinctive facial appearance, microcephaly, scoliosis, and ocular abnormalities, consisting mainly of abnormal retinal pigmentation, but also retinitis pigmentosa
Clinically, the ring 14 syndrome is characterized by a recognizable phenotype of shortness of stature, distinctive facial appearance, microc …
Progression Rate of Visual Function and Affecting Factors at Different Stages of Retinitis Pigmentosa.
Ito N, Miura G, Shiko Y, Kawasaki Y, Baba T, Yamamoto S. Ito N, et al. Biomed Res Int. 2022 Jul 14;2022:7204954. doi: 10.1155/2022/7204954. eCollection 2022. Biomed Res Int. 2022. PMID: 35872870 Free PMC article. Review.
We reviewed medical records of 121 patients/235 eyes of typical retinitis pigmentosa (RP) patients who could be followed up for at least 5 years with the aim of investigating the long-term course of visual function progression at each RP stage and appropriate assess …
We reviewed medical records of 121 patients/235 eyes of typical retinitis pigmentosa (RP) patients who could be followed up fo …
64 results