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Retinitis pigmentosa 25(RP25)

MedGen UID:
350427
Concept ID:
C1864446
Disease or Syndrome
Synonyms: RP 25; RP25
 
EYS (6q12)
 
Monarch Initiative: MONDO:0011272
OMIM®: 602772

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene. [from MONDO]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK
Invest Ophthalmol Vis Sci 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. PMID: 38743414Free PMC Article

Diagnosis

Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK
Invest Ophthalmol Vis Sci 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. PMID: 38743414Free PMC Article

Clinical prediction guides

Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK
Invest Ophthalmol Vis Sci 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. PMID: 38743414Free PMC Article
Bonilha VL, Rayborn ME, Bell BA, Marino MJ, Pauer GJ, Beight CD, Chiang J, Traboulsi EI, Hollyfield JG, Hagstrom SA
Graefes Arch Clin Exp Ophthalmol 2015 Feb;253(2):295-305. Epub 2014 Dec 11 doi: 10.1007/s00417-014-2868-z. PMID: 25491159Free PMC Article

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