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Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.
Gill JS, Theofylaktopoulos V, Mitsios A, Houston S, Hagag AM, Dubis AM, Moosajee M. Gill JS, et al. Int J Mol Sci. 2022 Apr 11;23(8):4198. doi: 10.3390/ijms23084198. Int J Mol Sci. 2022. PMID: 35457016 Free PMC article.
Thirty-two eyes from 16 patients (mean age SD, 36.0 14.2 years) with USH2A-associated Usher syndrome type 2 (n = 14) or non-syndromic RP (n = 2) met the inclusion criteria. ...
Thirty-two eyes from 16 patients (mean age SD, 36.0 14.2 years) with USH2A-associated Usher syndrome type 2 (n = …
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL. Micevych PS, et al. Am J Ophthalmol. 2023 Jun;250:1-11. doi: 10.1016/j.ajo.2023.01.006. Epub 2023 Jan 14. Am J Ophthalmol. 2023. PMID: 36646238 Free PMC article.
METHODS: This multicenter study included 13 eyes (9 participants) with RPGR-related X-linked retinitis pigmentosa (RPGR), 15 eyes (10 participants) with USH2A-related Usher syndrome type 2 (USH2), 16 eyes (9 participants) with USH2A-related autosomal r …
METHODS: This multicenter study included 13 eyes (9 participants) with RPGR-related X-linked retinitis pigmentosa (RPGR), 15 eyes (10 partic …
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
Lad EM, Duncan JL, Liang W, Maguire MG, Ayala AR, Audo I, Birch DG, Carroll J, Cheetham JK, Durham TA, Fahim AT, Loo J, Deng Z, Mukherjee D, Heon E, Hufnagel RB, Guan B, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Vincent A, Weng CY, Farsiu S; Foundation Fighting Blindness Consortium Investigator Group. Lad EM, et al. Am J Ophthalmol. 2022 Dec;244:98-116. doi: 10.1016/j.ajo.2022.08.013. Epub 2022 Aug 22. Am J Ophthalmol. 2022. PMID: 36007554 Free PMC article.
DESIGN: Natural history study METHODS: Setting: 16 clinical sites in Europe and North AmericaStudy Population: Participants with Usher syndrome type 2 (USH2) (N = 80) or autosomal recessive nonsyndromic RP (ARRP) (N = 47) associated with biallelic dise …
DESIGN: Natural history study METHODS: Setting: 16 clinical sites in Europe and North AmericaStudy Population: Participants with Usher …
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
García-García G, Besnard T, Baux D, Vaché C, Aller E, Malcolm S, Claustres M, Millan JM, Roux AF. García-García G, et al. Mol Vis. 2013;19:367-73. Epub 2013 Feb 13. Mol Vis. 2013. PMID: 23441107 Free PMC article.
BACKGROUND: Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and retinitis pigmentosa. ...RESULTS: We confirmed that mutations in GPR98 contribute a significant but minor role to Usher …
BACKGROUND: Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe h …
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Fakin A, Bonnet C, Kurtenbach A, Mohand-Said S, Zobor D, Stingl K, Testa F, Simonelli F, Sahel JA, Audo I, Zrenner E, Hawlina M, Petit C. Fakin A, et al. Int J Mol Sci. 2021 Sep 26;22(19):10352. doi: 10.3390/ijms221910352. Int J Mol Sci. 2021. PMID: 34638692 Free PMC article.
In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. ...
In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotyp …
Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group. Heon E, et al. Am J Ophthalmol. 2024 Apr;260:200-211. doi: 10.1016/j.ajo.2023.12.009. Epub 2023 Dec 21. Am J Ophthalmol. 2024. PMID: 38135239
METHODS: In individuals with biallelic disease-causing variants in USH2A, clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) was based on history of hearing loss and audiology examinations …
METHODS: In individuals with biallelic disease-causing variants in USH2A, clinical diagnosis of Usher syndrome type …
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone A, Brewer CC, Cheng P, Duncan JL, Maguire MG, Audo I, Ayala AR, Bernstein PS, Bidelman GM, Cheetham JK, Doty RL, Durham TA, Hufnagel RB, Myers MH, Stingl K, Zein WM; Foundation Fighting Blindness Consortium Investigator Group. Iannaccone A, et al. Am J Med Genet A. 2021 Dec;185(12):3717-3727. doi: 10.1002/ajmg.a.62437. Epub 2021 Jul 30. Am J Med Genet A. 2021. PMID: 34331386 Free PMC article.
Sensorineural hearing loss (SNHL) is characteristic of Usher syndrome type 2 (USH2), but less is known about SNHL in nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) and olfaction in USH2A-associated retinal degeneration. ...
Sensorineural hearing loss (SNHL) is characteristic of Usher syndrome type 2 (USH2), but less is known about SNH …
Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X. Zhu X, et al. Mol Med Rep. 2020 Jul;22(1):193-200. doi: 10.3892/mmr.2020.11087. Epub 2020 Apr 22. Mol Med Rep. 2020. PMID: 32319668 Free PMC article.
Retinitis pigmentosa (RP) is a group of inheritable blindness retinal diseases characterized by the death of photoreceptor cells and a gradual loss of peripheral vision. Mutations in Usher syndrome type 2 (USH2A) have been reported in RP with or withou …
Retinitis pigmentosa (RP) is a group of inheritable blindness retinal diseases characterized by the death of photoreceptor cells and a gradu …
Prevalence and geographical distribution of Usher syndrome in Germany.
Spandau UH, Rohrschneider K. Spandau UH, et al. Graefes Arch Clin Exp Ophthalmol. 2002 Jun;240(6):495-8. doi: 10.1007/s00417-002-0485-8. Epub 2002 May 23. Graefes Arch Clin Exp Ophthalmol. 2002. PMID: 12107518
RESULTS: The database of the University of Heidelberg contains 247 Usher syndrome patients, 63 with Usher syndrome type 1 (USH1) and 184 with Usher syndrome type 2 (USH2). The USH1:USH2 ratio in the Heidelberg database was 1:3. ...
RESULTS: The database of the University of Heidelberg contains 247 Usher syndrome patients, 63 with Usher syndrome type 1 (USH1) and 184 wit …
20 results