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Laser treatment in retinitis pigmentosa-a review.
Gawęcki M. Gawęcki M. Lasers Med Sci. 2020 Oct;35(8):1663-1670. doi: 10.1007/s10103-020-03036-9. Epub 2020 May 20. Lasers Med Sci. 2020. PMID: 32435907 Review.
Retinitis pigmentosa (RP) is a common inherited retinal disease for which effective treatment is not yet known. ...The PubMed database was searched using the following phrases: "laser photocoagulation", "subthreshold laser", "nanolaser", "micropulse laser", "reti …
Retinitis pigmentosa (RP) is a common inherited retinal disease for which effective treatment is not yet known. ...The PubMed …
Ciliopathy: Alström Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. Adv Exp Med Biol. 2018. PMID: 30578508 Review.
The fundus shows pigmentary retinopathy with peau d'orange appearance and some fine white dots like drusen around the macula; the disc is pale, with attenuated retinal vessels (Fig. 35.1). Patients have short stature; boys have hypogonadotropic hypogonadism and girls have …
The fundus shows pigmentary retinopathy with peau d'orange appearance and some fine white dots like drusen around the macula; the disc is pa …
Retinal remodeling.
Jones BW, Kondo M, Terasaki H, Lin Y, McCall M, Marc RE. Jones BW, et al. Jpn J Ophthalmol. 2012 Jul;56(4):289-306. doi: 10.1007/s10384-012-0147-2. Epub 2012 May 30. Jpn J Ophthalmol. 2012. PMID: 22644448 Free PMC article. Review.
Mutations in rhodopsin genes or disorders of the retinal pigment epithelium, defects in the adenosine triphosphate binding cassette transporter, ABCR gene defects, receptor tyrosine kinase defects, ciliopathies and transport defects, defects in both transducin and arrestin, defec …
Mutations in rhodopsin genes or disorders of the retinal pigment epithelium, defects in the adenosine triphosphate binding cassette transpor …
Cell therapy for retinal disease.
Yalla GR, Kuriyan AE. Yalla GR, et al. Curr Opin Ophthalmol. 2024 May 1;35(3):178-184. doi: 10.1097/ICU.0000000000001034. Epub 2024 Jan 24. Curr Opin Ophthalmol. 2024. PMID: 38276971 Review.
RECENT FINDINGS: In recent years, several clinical trials have been conducted examining the safety and role of cell therapy in diseases, including age-related macular degeneration, Stargardt's macular dystrophy, and retinitis pigmentosa. Studies have utilized a vari …
RECENT FINDINGS: In recent years, several clinical trials have been conducted examining the safety and role of cell therapy in diseases, inc …
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males.
Vinikoor-Imler LC, Simpson C, Narayanan D, Abbasi S, Lally C. Vinikoor-Imler LC, et al. Ophthalmic Genet. 2022 Oct;43(5):581-588. doi: 10.1080/13816810.2022.2109686. Epub 2022 Aug 25. Ophthalmic Genet. 2022. PMID: 36004681 Review.
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS AND METHODS: A comprehensive literature review was conducted to determine the prevalence of retinitis pigmentosa GTPase regula …
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS …
Protein farnesylation and disease.
Novelli G, D'Apice MR. Novelli G, et al. J Inherit Metab Dis. 2012 Sep;35(5):917-26. doi: 10.1007/s10545-011-9445-y. Epub 2012 Feb 4. J Inherit Metab Dis. 2012. PMID: 22307208 Review.
Moreover, alterations in the genes coding for isoprenylated proteins or enzymes that are involved in both prenylation and maturation processes have been found to be the basis of severe human diseases, such as cancer, neurodegenerative disorders, retinitis pigmentosa …
Moreover, alterations in the genes coding for isoprenylated proteins or enzymes that are involved in both prenylation and maturation process …
[Neuroacanthocytosis update].
Ichiba M, Nakamura M, Sano A. Ichiba M, et al. Brain Nerve. 2008 Jun;60(6):635-41. Brain Nerve. 2008. PMID: 18567359 Review. Japanese.
Advances in molecular genetics have enabled us to distinguish between these diseases. Recently, the hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration syndrome (HARP syndrome) has been genetically shown to be an allelic form o …
Advances in molecular genetics have enabled us to distinguish between these diseases. Recently, the hypoprebetalipoproteinemia, acanthocytos …
U6 RNA biogenesis and disease association.
Mroczek S, Dziembowski A. Mroczek S, et al. Wiley Interdiscip Rev RNA. 2013 Sep-Oct;4(5):581-92. doi: 10.1002/wrna.1181. Epub 2013 Jun 14. Wiley Interdiscip Rev RNA. 2013. PMID: 23776162 Review.
Disruptions of the basal splicing machinery can be lethal or lead to severe diseases such as spinal muscular atrophy, amyotrophic lateral sclerosis, or retinitis pigmentosa. Recent studies have identified a new U6 snRNA biogenesis factor Usb1, the absence of which l …
Disruptions of the basal splicing machinery can be lethal or lead to severe diseases such as spinal muscular atrophy, amyotrophic lateral sc …
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M, Georgiadis A, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2023 Sep;107(9):1223-1230. doi: 10.1136/bjo-2022-321903. Epub 2022 Aug 29. Br J Ophthalmol. 2023. PMID: 36038193 Review.
However, only recently has autosomal dominant (ad) disease been targeted, with the commencement of a trial for rhodopsin (RHO)-associated retinitis pigmentosa (RP), implementing antisense oligonucleotide (AON) therapy, with promising preliminary results (NCT04123626 …
However, only recently has autosomal dominant (ad) disease been targeted, with the commencement of a trial for rhodopsin (RHO)-associated …
23 results