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Year Number of Results
2002 1
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Page 1
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Le …
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: …
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Nolen RM, et al. Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6. Ophthalmic Genet. 2020. PMID: 32372680 Free PMC article. Review.
Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. ...
Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfu …
Genetics of Bietti Crystalline Dystrophy.
Ng DS, Lai TY, Ng TK, Pang CP. Ng DS, et al. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):245-52. doi: 10.1097/APO.0000000000000209. Asia Pac J Ophthalmol (Phila). 2016. PMID: 27228076 Free article. Review.
Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. ...Electroretinographic asses …
Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, …
Pathognomonic (diagnostic) ERGs. A review and update.
Vincent A, Robson AG, Holder GE. Vincent A, et al. Retina. 2013 Jan;33(1):5-12. doi: 10.1097/IAE.0b013e31827e2306. Retina. 2013. PMID: 23263253 Review.
PURPOSE: To review three inherited retinal disorders associated with diagnostic or pathognomonic electroretinogram (ERG) abnormalities: cone dystrophy with supernormal rod ERG (KCNV2), enhanced S-cone syndrome (NR2E3), and bradyopsia (RGS9/R9AP). ...Mu …
PURPOSE: To review three inherited retinal disorders associated with diagnostic or pathognomonic electroretinogram (ERG) abnormalities: c …
The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis.
Britten-Jones AC, Gocuk SA, Goh KL, Huq A, Edwards TL, Ayton LN. Britten-Jones AC, et al. Am J Ophthalmol. 2023 May;249:57-73. doi: 10.1016/j.ajo.2022.12.027. Epub 2022 Dec 30. Am J Ophthalmol. 2023. PMID: 36592879 Review.
The diagnostic yield of NGS was 61.3% (95% confidence interval: 57.8-64.7%; 51 studies) in mixed IRD phenotypes, 58.2% (51.6-64.6%; 41 studies) in rod-cone dystrophies, 57.7% (46.8-68.3%; eight studies) in macular and cone/cone-rod dys …
The diagnostic yield of NGS was 61.3% (95% confidence interval: 57.8-64.7%; 51 studies) in mixed IRD phenotypes, 58.2% (51.6-64.6%; 41 studi …
Causes and consequences of inherited cone disorders.
Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Roosing S, et al. Prog Retin Eye Res. 2014 Sep;42:1-26. doi: 10.1016/j.preteyeres.2014.05.001. Epub 2014 May 22. Prog Retin Eye Res. 2014. PMID: 24857951 Review.
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), cone-rod dystrophy (CRD), color vi …
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlyi …
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I. Sahel JA, et al. Cold Spring Harb Perspect Med. 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. Cold Spring Harb Perspect Med. 2014. PMID: 25324231 Free PMC article. Review.
Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11: 307-316.). IRDs may be inherited as Mendelian traits or through mitochondrial DNA, and may affect the entire retina (e.g., rod-cone dystrophy, al …
Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11: 307-316.). IRDs may be inh …
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, O …
Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in a …
Leber congenital amaurosis caused by mutations in GUCY2D.
Boye SE. Boye SE. Cold Spring Harb Perspect Med. 2014 Sep 25;5(1):a017350. doi: 10.1101/cshperspect.a017350. Cold Spring Harb Perspect Med. 2014. PMID: 25256176 Free PMC article. Review.
GUCY2D encodes guanylate cyclase-1 (GC1), a protein expressed in rod and cone photoreceptors that regulates cGMP and Ca(2+) levels within these cells. ...Despite a high degree of visual disturbance, LCA1 patients retain normal photoreceptor laminar architecture, exc …
GUCY2D encodes guanylate cyclase-1 (GC1), a protein expressed in rod and cone photoreceptors that regulates cGMP and Ca(2+) le …
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).Autosomal do …
However, only recently has autosomal dominant (ad) disease been targeted, with the commencement of a trial for rhodopsin (RHO)-associated re …
21 results