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Achromatopsia 9

MedGen UID:
833820
Concept ID:
CN230071
Disease or Syndrome

Professional guidelines

PubMed

Poonam NS, Alam MS, Oberoi P, Mukherjee B
Indian J Ophthalmol 2022 Dec;70(12):4419-4426. doi: 10.4103/ijo.IJO_719_22. PMID: 36453357Free PMC Article
Arnegard S, Baraas RC, Neitz J, Hagen LA, Neitz M
Acta Ophthalmol 2022 Nov;100(7):805-812. Epub 2022 Feb 3 doi: 10.1111/aos.15103. PMID: 35113505Free PMC Article
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article

Recent clinical studies

Etiology

Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Eghrari AO, Bishop RJ, Ross RD, Davis B, Larbelee J, Amegashie F, Dolo RF, Prakalapakorn SG, Gaisie C, Gargu C, Sosu Y, Sackor J, Cooper PZ, Wallace A, Nyain R, Gray M, Kamara F, Burkholder B, Brady CJ, Ray V, Tawse KL, Yeung I, Neaton JD, Higgs ES, Lane HC, Reilly C, Sneller MC, Fallah MP
JAMA Netw Open 2021 Jan 4;4(1):e2032216. doi: 10.1001/jamanetworkopen.2020.32216. PMID: 33399856Free PMC Article
Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S
Hum Mutat 2020 Sep;41(9):1514-1527. Epub 2020 Jun 29 doi: 10.1002/humu.24064. PMID: 32531858
Beck RW, Cleary PA, Anderson MM Jr, Keltner JL, Shults WT, Kaufman DI, Buckley EG, Corbett JJ, Kupersmith MJ, Miller NR
N Engl J Med 1992 Feb 27;326(9):581-8. doi: 10.1056/NEJM199202273260901. PMID: 1734247

Diagnosis

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S
Hum Mutat 2020 Sep;41(9):1514-1527. Epub 2020 Jun 29 doi: 10.1002/humu.24064. PMID: 32531858
Barboni MTS, Hauzman E, Nagy BV, Martins CMG, Aher AJ, Tsai TI, Bonci DMO, Ventura DF, Kremers J
Vision Res 2019 May;158:135-145. Epub 2019 Mar 7 doi: 10.1016/j.visres.2019.02.011. PMID: 30844384
Beck RW, Cleary PA, Anderson MM Jr, Keltner JL, Shults WT, Kaufman DI, Buckley EG, Corbett JJ, Kupersmith MJ, Miller NR
N Engl J Med 1992 Feb 27;326(9):581-8. doi: 10.1056/NEJM199202273260901. PMID: 1734247

Therapy

Michaelides M, Hirji N, Wong SC, Besirli CG, Zaman S, Kumaran N, Georgiadis A, Smith AJ, Ripamonti C, Gottlob I, Robson AG, Thiadens A, Henderson RH, Fleck P, Anglade E, Dong X, Capuano G, Lu W, Berry P, Kane T, Naylor S, Georgiou M, Kalitzeos A, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2023 Sep;253:243-251. Epub 2023 May 11 doi: 10.1016/j.ajo.2023.05.009. PMID: 37172884
Lo G, Ng JS
Optom Vis Sci 2023 Feb 1;100(2):158-163. Epub 2023 Jan 18 doi: 10.1097/OPX.0000000000001991. PMID: 36649587
Choi AR, Braun JM, Papandonatos GD, Greenberg PB
Am J Ind Med 2017 Nov;60(11):930-946. Epub 2017 Aug 24 doi: 10.1002/ajim.22766. PMID: 28836685Free PMC Article
de Moraes G, Layton CJ
Clin Exp Ophthalmol 2016 Dec;44(9):838-852. Epub 2016 Aug 1 doi: 10.1111/ceo.12795. PMID: 27334889
Beck RW, Cleary PA, Anderson MM Jr, Keltner JL, Shults WT, Kaufman DI, Buckley EG, Corbett JJ, Kupersmith MJ, Miller NR
N Engl J Med 1992 Feb 27;326(9):581-8. doi: 10.1056/NEJM199202273260901. PMID: 1734247

Prognosis

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Bayer L, Funk J, Töteberg-Harms M
Int Ophthalmol 2020 Mar;40(3):597-605. Epub 2019 Nov 8 doi: 10.1007/s10792-019-01218-1. PMID: 31705359
Beck RW, Cleary PA, Anderson MM Jr, Keltner JL, Shults WT, Kaufman DI, Buckley EG, Corbett JJ, Kupersmith MJ, Miller NR
N Engl J Med 1992 Feb 27;326(9):581-8. doi: 10.1056/NEJM199202273260901. PMID: 1734247

Clinical prediction guides

Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
Michaelides M, Hirji N, Wong SC, Besirli CG, Zaman S, Kumaran N, Georgiadis A, Smith AJ, Ripamonti C, Gottlob I, Robson AG, Thiadens A, Henderson RH, Fleck P, Anglade E, Dong X, Capuano G, Lu W, Berry P, Kane T, Naylor S, Georgiou M, Kalitzeos A, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2023 Sep;253:243-251. Epub 2023 May 11 doi: 10.1016/j.ajo.2023.05.009. PMID: 37172884
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article

Recent systematic reviews

Sohrabi Y, Rahimian F, Soleimani E, Hassanipour S
Int J Occup Saf Ergon 2024 Mar;30(1):9-19. Epub 2023 Jan 27 doi: 10.1080/10803548.2022.2157543. PMID: 36502281
Choi AR, Braun JM, Papandonatos GD, Greenberg PB
Am J Ind Med 2017 Nov;60(11):930-946. Epub 2017 Aug 24 doi: 10.1002/ajim.22766. PMID: 28836685Free PMC Article

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