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Cataract 43(CTRCT43)

MedGen UID:
901691
Concept ID:
C4225389
Disease or Syndrome
Synonym: CTRCT43
 
Gene (location): UNC45B (17q12)
 
Monarch Initiative: MONDO:0014565
OMIM®: 616279

Definition

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene. [from MONDO]

Clinical features

From HPO
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.

Professional guidelines

PubMed

Shields CL, Mashayekhi A, Sun H, Uysal Y, Friere J, Komarnicky L, Shields JA
Ophthalmology 2006 Nov;113(11):2087-92. Epub 2006 Sep 1 doi: 10.1016/j.ophtha.2006.04.032. PMID: 16949158

Recent clinical studies

Etiology

Vision Loss Expert Group of the Global Burden of Disease Study; GBD 2019 Blindness and Vision Impairment Collaborators
Eye (Lond) 2024 Aug;38(11):2156-2172. doi: 10.1038/s41433-024-02961-1. PMID: 38461217Free PMC Article
Bellucci C, Mora P, Tedesco SA, Bellucci R, Gandolfi S
Int Ophthalmol 2023 Sep;43(9):3339-3343. Epub 2023 May 16 doi: 10.1007/s10792-023-02739-6. PMID: 37191929Free PMC Article
Savastano A, Weinberg T, Faraldi F, Caporossi T, Rizzo S
Retina 2023 Feb 1;43(2):363-366. Epub 2020 May 1 doi: 10.1097/IAE.0000000000002823. PMID: 32366784
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Papastavrou VT, Borooah S, O'Brien JM, Ray-Chaudhuri N, Dhillon B, Vieira RV, Browning AC
J Cataract Refract Surg 2017 Aug;43(8):1036-1043. doi: 10.1016/j.jcrs.2017.05.041. PMID: 28917403

Diagnosis

Ferguson EL, Thoma M, Buto PT, Wang J, Glymour MM, Hoffmann TJ, Choquet H, Andrews SJ, Yaffe K, Casaletto K, Brenowitz WD
JAMA Netw Open 2024 Jul 1;7(7):e2424539. doi: 10.1001/jamanetworkopen.2024.24539. PMID: 39078629Free PMC Article
Matović K, Mekjavić PJ, Groznik AL, Fakin A, Petrovič MG, Pfeifer V, Valentinčič NV
Ophthalmic Surg Lasers Imaging Retina 2022 Dec;53(12):702-712. Epub 2022 Dec 1 doi: 10.3928/23258160-20221026-03. PMID: 36547956
Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271
Abdellaoui T, Malek Y, Akioud W, Belfaiza S, Elasri F, Reda K, Oubaaz A
J Fr Ophtalmol 2020 Dec;43(10):1103-1104. Epub 2020 Sep 10 doi: 10.1016/j.jfo.2020.01.019. PMID: 32921523
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article

Therapy

Ferguson EL, Thoma M, Buto PT, Wang J, Glymour MM, Hoffmann TJ, Choquet H, Andrews SJ, Yaffe K, Casaletto K, Brenowitz WD
JAMA Netw Open 2024 Jul 1;7(7):e2424539. doi: 10.1001/jamanetworkopen.2024.24539. PMID: 39078629Free PMC Article
Colón-Emeric CS, McDermott CL, Lee DS, Berry SD
JAMA 2024 Apr 23;331(16):1397-1406. doi: 10.1001/jama.2024.1416. PMID: 38536167
Savastano A, Weinberg T, Faraldi F, Caporossi T, Rizzo S
Retina 2023 Feb 1;43(2):363-366. Epub 2020 May 1 doi: 10.1097/IAE.0000000000002823. PMID: 32366784
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Rubin GS
Vision Res 2013 Sep 20;90:43-51. Epub 2013 Mar 16 doi: 10.1016/j.visres.2013.02.015. PMID: 23506967

Prognosis

Hayes WG, Wilson ME, Trivedi RH
J AAPOS 2024 Aug;28(4):103965. Epub 2024 Jul 3 doi: 10.1016/j.jaapos.2024.103965. PMID: 38969089
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e130-e143. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30425-3. PMID: 33275950Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Lambert SR, Cotsonis G, DuBois L, Nizam Ms A, Kruger SJ, Hartmann EE, Weakley DR Jr, Drews-Botsch C; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2020 Apr 1;138(4):365-372. doi: 10.1001/jamaophthalmol.2020.0006. PMID: 32077909Free PMC Article
Daugherty J, Lin X, Baxter R, Suruki R, Bradford E
J Asthma 2018 Jun;55(6):651-658. Epub 2017 Sep 19 doi: 10.1080/02770903.2017.1353612. PMID: 28925768

Clinical prediction guides

Savastano A, Weinberg T, Faraldi F, Caporossi T, Rizzo S
Retina 2023 Feb 1;43(2):363-366. Epub 2020 May 1 doi: 10.1097/IAE.0000000000002823. PMID: 32366784
Vélasque L, Arbousoff N, Rigaudier F, Dominguez M, Fourmaux E, Rosier L, Seguy C
J Fr Ophtalmol 2021 Oct;44(8):1129-1141. Epub 2021 Jul 8 doi: 10.1016/j.jfo.2021.01.006. PMID: 34246497
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e130-e143. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30425-3. PMID: 33275950Free PMC Article
Daugherty J, Lin X, Baxter R, Suruki R, Bradford E
J Asthma 2018 Jun;55(6):651-658. Epub 2017 Sep 19 doi: 10.1080/02770903.2017.1353612. PMID: 28925768
Rubin GS
Vision Res 2013 Sep 20;90:43-51. Epub 2013 Mar 16 doi: 10.1016/j.visres.2013.02.015. PMID: 23506967

Recent systematic reviews

Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free PMC Article
Zhang GQ, Chen JL, Luo Y, Mathur MB, Anagnostis P, Nurmatov U, Talibov M, Zhang J, Hawrylowicz CM, Lumsden MA, Critchley H, Sheikh A, Lundbäck B, Lässer C, Kankaanranta H, Lee SH, Nwaru BI
PLoS Med 2021 Aug;18(8):e1003731. Epub 2021 Aug 2 doi: 10.1371/journal.pmed.1003731. PMID: 34339416Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
Pascolini D, Mariotti SP
Br J Ophthalmol 2012 May;96(5):614-8. Epub 2011 Dec 1 doi: 10.1136/bjophthalmol-2011-300539. PMID: 22133988

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