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USH2A-related disorder

MedGen UID:
893491
•Concept ID:
CN239332
•
Disease or Syndrome
Synonyms: USH2A-related condition; USH2A-Related Disorders

Professional guidelines

PubMed

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM
Otol Neurotol 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. PMID: 32176120

Recent clinical studies

Etiology

Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.
Maguire MG, Birch DG, Duncan JL, Ayala AR, Ayton LN, Cheetham JK, Cheng P, Durham TA, Ferris FL 3rd, Hoyng CB, Huckfeldt RM, Jaffe GJ, Kay C, Lad EM, Leroy BP, Liang W, McDaniel LS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Samarakoon L; REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
Transl Vis Sci Technol 2024 Oct 1;13(10):15. doi: 10.1167/tvst.13.10.15. PMID: 39382872Free PMC Article
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
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat 2022 May;43(5):613-624. Epub 2022 Mar 21 doi: 10.1002/humu.24365. PMID: 35266249Free PMC Article
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
Am J Med Genet A 2021 Dec;185(12):3717-3727. Epub 2021 Jul 30 doi: 10.1002/ajmg.a.62437. PMID: 34331386Free PMC Article
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM
Otol Neurotol 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. PMID: 32176120

Diagnosis

Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.
Maguire MG, Birch DG, Duncan JL, Ayala AR, Ayton LN, Cheetham JK, Cheng P, Durham TA, Ferris FL 3rd, Hoyng CB, Huckfeldt RM, Jaffe GJ, Kay C, Lad EM, Leroy BP, Liang W, McDaniel LS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Samarakoon L; REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
Transl Vis Sci Technol 2024 Oct 1;13(10):15. doi: 10.1167/tvst.13.10.15. PMID: 39382872Free PMC Article
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
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat 2022 May;43(5):613-624. Epub 2022 Mar 21 doi: 10.1002/humu.24365. PMID: 35266249Free PMC Article
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
Am J Med Genet A 2021 Dec;185(12):3717-3727. Epub 2021 Jul 30 doi: 10.1002/ajmg.a.62437. PMID: 34331386Free PMC Article
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M
Hum Mol Genet 2020 Jul 21;29(11):1882-1899. doi: 10.1093/hmg/ddaa004. PMID: 31998945Free PMC Article

Therapy

Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.
Maguire MG, Birch DG, Duncan JL, Ayala AR, Ayton LN, Cheetham JK, Cheng P, Durham TA, Ferris FL 3rd, Hoyng CB, Huckfeldt RM, Jaffe GJ, Kay C, Lad EM, Leroy BP, Liang W, McDaniel LS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Samarakoon L; REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
Transl Vis Sci Technol 2024 Oct 1;13(10):15. doi: 10.1167/tvst.13.10.15. PMID: 39382872Free PMC Article
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat 2022 May;43(5):613-624. Epub 2022 Mar 21 doi: 10.1002/humu.24365. PMID: 35266249Free PMC Article
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M
Hum Mol Genet 2020 Jul 21;29(11):1882-1899. doi: 10.1093/hmg/ddaa004. PMID: 31998945Free PMC Article
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
Samanta A, Stingl K, Kohl S, Ries J, Linnert J, Nagel-Wolfrum K
Int J Mol Sci 2019 Dec 12;20(24) doi: 10.3390/ijms20246274. PMID: 31842393Free PMC Article

Prognosis

Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.
Nam DW, Song YK, Kim JH, Lee EK, Park KH, Cha J, Choi BY, Lee JH, Oh SH, Jo DH, Lee SY
Sci Rep 2023 Nov 19;13(1):20239. doi: 10.1038/s41598-023-47166-w. PMID: 37981655Free PMC Article
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat 2022 May;43(5):613-624. Epub 2022 Mar 21 doi: 10.1002/humu.24365. PMID: 35266249Free PMC Article
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, Cheetham JK, Durham TA, Fahim AT, Ferris FL 3rd, Heon E, Huckfeldt RM, Iannaccone A, Khan NW, Lad EM, Michaelides M, Pennesi ME, Stingl K, Vincent A, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Transl Vis Sci Technol 2020 Oct;9(11):9. Epub 2020 Oct 8 doi: 10.1167/tvst.9.11.9. PMID: 33133772Free PMC Article
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM
Otol Neurotol 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. PMID: 32176120
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta H, Minoshima S, Hotta Y
Semin Ophthalmol 2018;33(4):560-565. Epub 2017 Jul 5 doi: 10.1080/08820538.2017.1340487. PMID: 28678594

Clinical prediction guides

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
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat 2022 May;43(5):613-624. Epub 2022 Mar 21 doi: 10.1002/humu.24365. PMID: 35266249Free PMC Article
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
Am J Med Genet A 2021 Dec;185(12):3717-3727. Epub 2021 Jul 30 doi: 10.1002/ajmg.a.62437. PMID: 34331386Free PMC Article
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M
Hum Mol Genet 2020 Jul 21;29(11):1882-1899. doi: 10.1093/hmg/ddaa004. PMID: 31998945Free PMC Article
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR
Eur J Hum Genet 2015 Oct;23(10):1318-27. Epub 2015 Feb 4 doi: 10.1038/ejhg.2014.283. PMID: 25649381Free PMC Article

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