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Abnormal kinetic perimetry test

MedGen UID:
892982
•Concept ID:
C4073063
•
Finding
HPO: HP:0030591

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal kinetic perimetry test

Recent clinical studies

Etiology

Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.
Meunier A, Zanlonghi X, Roux AF, Fils JF, Caspers L, Migeotte I, Abramowicz M, Meunier I
Ophthalmic Genet 2022 Aug;43(4):470-475. Epub 2022 Mar 28 doi: 10.1080/13816810.2022.2051191. PMID: 35345973
Accuracy of kinetic perimetry assessment with the Humphrey 850; an exploratory comparative study.
Rowe FJ, Hepworth LR, Hanna KL, Mistry M, Noonan CP
Eye (Lond) 2019 Dec;33(12):1952-1960. Epub 2019 Jul 22 doi: 10.1038/s41433-019-0520-1. PMID: 31332292Free PMC Article
Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.
Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG
Am J Ophthalmol 2018 Sep;193:114-129. Epub 2018 Jun 25 doi: 10.1016/j.ajo.2018.06.017. PMID: 29953849
Patterns of peripapillary retinal nerve fiber layer thinning in vigabatrin-exposed individuals.
Clayton LM, Devile M, Punte T, de Haan GJ, Sander JW, Acheson JF, Sisodiya SM
Ophthalmology 2012 Oct;119(10):2152-60. Epub 2012 Jul 30 doi: 10.1016/j.ophtha.2012.05.009. PMID: 22853973
Visual function in epilepsy patients treated with initial valproate monotherapy.
Sorri I, Rissanen E, Mäntyjärvi M, Kälviäinen R
Seizure 2005 Sep;14(6):367-70. doi: 10.1016/j.seizure.2005.04.010. PMID: 15939631

Diagnosis

Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.
Meunier A, Zanlonghi X, Roux AF, Fils JF, Caspers L, Migeotte I, Abramowicz M, Meunier I
Ophthalmic Genet 2022 Aug;43(4):470-475. Epub 2022 Mar 28 doi: 10.1080/13816810.2022.2051191. PMID: 35345973
Functional characteristics of glaucoma related arcuate defects seen on OCT en face visualisation of the retinal nerve fibre layer.
Ashimatey BS, King BJ, Swanson WH
Ophthalmic Physiol Opt 2021 Mar;41(2):437-446. Epub 2021 Jan 25 doi: 10.1111/opo.12780. PMID: 33492742Free PMC Article
Accuracy of kinetic perimetry assessment with the Humphrey 850; an exploratory comparative study.
Rowe FJ, Hepworth LR, Hanna KL, Mistry M, Noonan CP
Eye (Lond) 2019 Dec;33(12):1952-1960. Epub 2019 Jul 22 doi: 10.1038/s41433-019-0520-1. PMID: 31332292Free PMC Article
Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.
Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG
Am J Ophthalmol 2018 Sep;193:114-129. Epub 2018 Jun 25 doi: 10.1016/j.ajo.2018.06.017. PMID: 29953849
Computerized profile perimetry in glaucoma.
Heijl A, Drance SM
Arch Ophthalmol 1980 Dec;98(12):2199-201. doi: 10.1001/archopht.1980.01020041051009. PMID: 7447773

Therapy

Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.
Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG
Am J Ophthalmol 2018 Sep;193:114-129. Epub 2018 Jun 25 doi: 10.1016/j.ajo.2018.06.017. PMID: 29953849
Diagnostic methods in ocular argyrosis: case report.
Sarnat-Kucharczyk M, Pojda-Wilczek D, Mrukwa-Kominek E
Doc Ophthalmol 2016 Oct;133(2):129-138. Epub 2016 Jul 8 doi: 10.1007/s10633-016-9552-z. PMID: 27392933Free PMC Article
Patterns of peripapillary retinal nerve fiber layer thinning in vigabatrin-exposed individuals.
Clayton LM, Devile M, Punte T, de Haan GJ, Sander JW, Acheson JF, Sisodiya SM
Ophthalmology 2012 Oct;119(10):2152-60. Epub 2012 Jul 30 doi: 10.1016/j.ophtha.2012.05.009. PMID: 22853973
Visual fields at school-age in children treated with vigabatrin in infancy.
Gaily E, Jonsson H, Lappi M
Epilepsia 2009 Feb;50(2):206-16. doi: 10.1111/j.1528-1167.2008.01961.x. PMID: 19215279
Visual function in epilepsy patients treated with initial valproate monotherapy.
Sorri I, Rissanen E, Mäntyjärvi M, Kälviäinen R
Seizure 2005 Sep;14(6):367-70. doi: 10.1016/j.seizure.2005.04.010. PMID: 15939631

Prognosis

Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
Yang P, Chiang PW, Weleber RG, Pennesi ME
JAMA Ophthalmol 2015 Jun;133(6):653-61. doi: 10.1001/jamaophthalmol.2015.0357. PMID: 25789692Free PMC Article
Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.
Neri A, Leaci R, Zenteno JC, Casubolo C, Delfini E, Macaluso C
Mol Vis 2012;18:2623-32. Epub 2012 Oct 26 PMID: 23112574Free PMC Article
Visual fields at school-age in children treated with vigabatrin in infancy.
Gaily E, Jonsson H, Lappi M
Epilepsia 2009 Feb;50(2):206-16. doi: 10.1111/j.1528-1167.2008.01961.x. PMID: 19215279
Natural course of visual field loss in patients with Type 2 Usher syndrome.
Fishman GA, Bozbeyoglu S, Massof RW, Kimberling W
Retina 2007 Jun;27(5):601-8. doi: 10.1097/01.iae.0000246675.88911.2c. PMID: 17558323

Clinical prediction guides

Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.
Meunier A, Zanlonghi X, Roux AF, Fils JF, Caspers L, Migeotte I, Abramowicz M, Meunier I
Ophthalmic Genet 2022 Aug;43(4):470-475. Epub 2022 Mar 28 doi: 10.1080/13816810.2022.2051191. PMID: 35345973
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL 3rd, Heon E, Hufnagel RB, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Sahel JA; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2020 Nov;219:87-100. Epub 2020 May 22 doi: 10.1016/j.ajo.2020.05.024. PMID: 32446738Free PMC Article
Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.
Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG
Am J Ophthalmol 2018 Sep;193:114-129. Epub 2018 Jun 25 doi: 10.1016/j.ajo.2018.06.017. PMID: 29953849
Patterns of peripapillary retinal nerve fiber layer thinning in vigabatrin-exposed individuals.
Clayton LM, Devile M, Punte T, de Haan GJ, Sander JW, Acheson JF, Sisodiya SM
Ophthalmology 2012 Oct;119(10):2152-60. Epub 2012 Jul 30 doi: 10.1016/j.ophtha.2012.05.009. PMID: 22853973
Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree.
Brown J Jr, Kimura AE, Gorin MB
Ophthalmology 2000 Jun;107(6):1104-10. doi: 10.1016/s0161-6420(00)00086-5. PMID: 10857830

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