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Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM. Cornelis SS, et al. Am J Hum Genet. 2022 Mar 3;109(3):498-507. doi: 10.1016/j.ajhg.2022.01.008. Epub 2022 Feb 3. Am J Hum Genet. 2022. PMID: 35120629 Free PMC article.
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown. An example of this is Stargardt disease (STGD1), a frequent recessive retinal disease …
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population freque …
Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Pfau M, Zein WM, Huryn LA, Cukras CA, Jeffrey BG, Hufnagel RB, Brooks BP. Pfau M, et al. Adv Exp Med Biol. 2023;1415:289-295. doi: 10.1007/978-3-031-27681-1_42. Adv Exp Med Biol. 2023. PMID: 37440047
Stargardt disease (STGD1) is the most common inherited retina degeneration. ...Notably, a subset of ABCA4 variants was previously associated with an earlier disease onset than truncating ABCA4 variants, pointing toward pathogenic mechanisms beyond the loss of …
Stargardt disease (STGD1) is the most common inherited retina degeneration. ...Notably, a subset of ABCA4 variants was previou …
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Heath Jeffery RC, Thompson JA, Lo J, Lamey TM, McLaren TL, McAllister IL, Constable IJ, De Roach JN, Chen FK. Heath Jeffery RC, et al. Genes (Basel). 2021 Dec 14;12(12):1981. doi: 10.3390/genes12121981. Genes (Basel). 2021. PMID: 34946930 Free PMC article.
Reported growth rates (GR) of atrophic lesions in Stargardt disease (STGD1) vary widely. In the present study, we report the longitudinal natural history of patients with confirmed biallelic ABCA4 mutations from five genotype groups: c.6079C>T, c.[2588G>C;5603 …
Reported growth rates (GR) of atrophic lesions in Stargardt disease (STGD1) vary widely. In the present study, we report the l …
Stargardt-Fundus flavimaculatus: recent advancements and treatment.
Haji Abdollahi S, Hirose T. Haji Abdollahi S, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):372-6. doi: 10.3109/08820538.2013.825286. Semin Ophthalmol. 2013. PMID: 24138045 Review.
Stargardt disease is the most common form of autosomal recessive macular dystrophy. Mutation in the ABCA4 gene (ABCR protein) is responsible for disease manifestation in more than 95% of Stargardt patients. ABCA4 codes for a member of the ATP binding c …
Stargardt disease is the most common form of autosomal recessive macular dystrophy. Mutation in the ABCA4 gene (ABCR protein) …
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.
BACKGROUND: Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 gene. ...All patients were sporadic cases; only one patient had parents who were relatives, and t …
BACKGROUND: Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is mos …
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%). ...However, three patients had the foveal sparing phenotype and had relatively preserved visual acu …
In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa ( …
Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease.
Jimenez-Rolando B, Garcia-Sandoval B, Del Pozo-Valero M, Ayuso C, Garcia-Ferreira M, Abellanas M, Campos-Seco S, Carreño E. Jimenez-Rolando B, et al. Eur J Ophthalmol. 2022 Nov;32(6):3201-3207. doi: 10.1177/11206721221093986. Epub 2022 Apr 14. Eur J Ophthalmol. 2022. PMID: 35422128
BACKGROUND AND OBJECTIVES: Stargardt disease produces lipofuscin accumulation predisposing to subretinal fibrosis (SRFib) after ocular trauma. ...CONCLUSION: SRFib occurs in a significant percentage of patients with Stargardt disease and can be diagnos …
BACKGROUND AND OBJECTIVES: Stargardt disease produces lipofuscin accumulation predisposing to subretinal fibrosis (SRFib) afte …
Stem Cell-based Treatment Strategies for Degenerative Diseases of the Retina.
Nair DSR, Thomas BB. Nair DSR, et al. Curr Stem Cell Res Ther. 2022;17(3):214-225. doi: 10.2174/1574888X16666210804112104. Curr Stem Cell Res Ther. 2022. PMID: 34348629 Free PMC article.
Various methods have been established for the differentiation of pluripotent stem cells into different retinal cell types that can be used for therapies. Factors released from transplanted somatic stem cells showed trophic support and photoreceptor rescue during the early …
Various methods have been established for the differentiation of pluripotent stem cells into different retinal cell types that can be used f …
Current Stem-Cell Approaches for the Treatment of Inherited Retinal Degenerations.
Terrell D, Comander J. Terrell D, et al. Semin Ophthalmol. 2019;34(4):287-292. doi: 10.1080/08820538.2019.1620808. Epub 2019 Jun 12. Semin Ophthalmol. 2019. PMID: 31188052 Review.
Stem cells provide a promising new therapeutic approach for the treatment of multiple acquired and inherited retinal conditions. While to date, there have been numerous clinical trials examining the ability of stem cells to treat the geographic atrophy found in advanced no …
Stem cells provide a promising new therapeutic approach for the treatment of multiple acquired and inherited retinal conditions. Whil …
Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.
Xue K, MacLaren RE. Xue K, et al. Expert Opin Investig Drugs. 2020 Oct;29(10):1163-1170. doi: 10.1080/13543784.2020.1804853. Epub 2020 Sep 1. Expert Opin Investig Drugs. 2020. PMID: 32741234 Review.
They could modulate pre-messenger RNA splicing, induce mRNA knockdown, or block translation of disease-causing genes, thereby slowing disease progression. The pharmacokinetics of intravitreal delivery may enable ASOs to be effective in the treatment of inherited ret …
They could modulate pre-messenger RNA splicing, induce mRNA knockdown, or block translation of disease-causing genes, thereby slowing …
38 results