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Year Number of Results
1999 1
2004 1
2009 1
2010 1
2011 1
2012 1
2013 1
2014 3
2015 3
2016 1
2018 1
2019 2
2020 6
2021 6
2022 3
2023 1
2024 3

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32 results

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Page 1
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.
The PubMed database was searched using the following phrases: "laser photocoagulation", "subthreshold laser", "nanolaser", "micropulse laser", "retinitis pigmentosa", "rod-cone dystrophy", and "retinal dystrophy". Results were stratified as clinical or …
The PubMed database was searched using the following phrases: "laser photocoagulation", "subthreshold laser", "nanolaser", "micropulse laser …
Ocular findings and genetic test in Alstrom syndrome in childhood.
Wang Y, Huang L, Sun L, Li S, Zhang Z, Zhang T, Lai Y, Ding X. Wang Y, et al. Exp Eye Res. 2022 Dec;225:109277. doi: 10.1016/j.exer.2022.109277. Epub 2022 Oct 4. Exp Eye Res. 2022. PMID: 36206858
Optical coherence tomography (OCT) revealed progressive damage to the photoreceptor layer, including blurred ellipsoid zone (EZ) and lack of interdigitation zone (IZ) within the macula, and thorough loss of photoreceptor layer in the peripheral retina. Electroretinograms (ERG) de …
Optical coherence tomography (OCT) revealed progressive damage to the photoreceptor layer, including blurred ellipsoid zone (EZ) and lack of …
Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline.
Sun W, Zhang Q. Sun W, et al. Prog Mol Biol Transl Sci. 2019;161:1-27. doi: 10.1016/bs.pmbts.2018.10.002. Epub 2018 Nov 23. Prog Mol Biol Transl Sci. 2019. PMID: 30711023 Review.
So far, CNGA3 mutations are not only one of the most common causes of achromatopsia and cone dystrophy or cone-rod dystrophy but also one of the most commonly mutated genes among various forms of retinopathy. ...
So far, CNGA3 mutations are not only one of the most common causes of achromatopsia and cone dystrophy or cone-rod …
Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Xiao X, Ye L, Chen C, Zheng H, Yuan J. Xiao X, et al. Curr Gene Ther. 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. Curr Gene Ther. 2022. PMID: 35170407 Free PMC article.
Two patients presented with Stargardt disease, mainly with macular lesions, two presented with retinitis pigmentosa (cone-rod type), and one presented with cone dystrophy. The visual acuity and visual field of the five patients showed varying degrees o …
Two patients presented with Stargardt disease, mainly with macular lesions, two presented with retinitis pigmentosa (cone-rod …
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV. Florea L, et al. Genes (Basel). 2021 Aug 29;12(9):1353. doi: 10.3390/genes12091353. Genes (Basel). 2021. PMID: 34573333 Free PMC article. Review.
The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. ...
The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesi …
Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.
Shoemaker A. Shoemaker A. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:25-33. doi: 10.1111/dom.15494. Epub 2024 Feb 21. Diabetes Obes Metab. 2024. PMID: 38383825 Review.
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod-cone dystrophy. BBS is an autosomal recessive disorder with >20 implicated gen …
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developme …
Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC. Sung YC, et al. Genes (Basel). 2020 Nov 27;11(12):1421. doi: 10.3390/genes11121421. Genes (Basel). 2020. PMID: 33261146 Free PMC article.
In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and cone-rod dystrophy (5.41%). STGD1 could be further divided into central and dispersed types. ...
In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and …
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN. Britten-Jones AC, et al. Genet Med. 2022 Mar;24(3):521-534. doi: 10.1016/j.gim.2021.10.013. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906485 Free article. Review.
RESULTS: This study identified 47 full-text publications, 50 conference abstracts, and 54 clinical trial registry entries describing DNA-based ocular gene therapy treatments for 16 different genetic variants. Study summaries and visual representations of safety and efficac …
RESULTS: This study identified 47 full-text publications, 50 conference abstracts, and 54 clinical trial registry entries describing DNA-bas …
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF. Talib M, et al. Acta Ophthalmol. 2021 May;99(3):e402-e414. doi: 10.1111/aos.14597. Epub 2021 Feb 2. Acta Ophthalmol. 2021. PMID: 33528094 Free PMC article.
RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dystrophy (n = 2; GI) or macular dystrophy (n = 1; non-GI). ...
RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dystrophy (n = 2; GI) or macular dystro …
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW. Aleman TS, et al. Ophthalmic Genet. 2021 Jun;42(3):252-265. doi: 10.1080/13816810.2021.1888132. Epub 2021 Mar 17. Ophthalmic Genet. 2021. PMID: 33729075 Free PMC article.
Visual acuities were better than 20/30. Kinetic fields were moderately constricted. Cone-mediated ffERGs were undetectable, rod ERGs were ~80% of normal mean. ...Predominantly central retinal abnormalities in both cone and rod photoreceptors showed a s …
Visual acuities were better than 20/30. Kinetic fields were moderately constricted. Cone-mediated ffERGs were undetectable, rod …
32 results