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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

Xiong Z, Li X, Yang D, Xiong C, Xu Q, Zhou Q
Behav Brain Res 2023 Jul 26;450:114455. Epub 2023 May 4 doi: 10.1016/j.bbr.2023.114455. PMID: 37148915
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free 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
Park SJ, Lee JH, Kang SW, Hyon JY, Park KH
J Korean Med Sci 2016 Jun;31(6):963-71. Epub 2016 Apr 5 doi: 10.3346/jkms.2016.31.6.963. PMID: 27247507Free PMC Article
Song E, Sun H, Xu Y, Ma Y, Zhu H, Pan CW
PLoS One 2014;9(11):e112054. Epub 2014 Nov 4 doi: 10.1371/journal.pone.0112054. PMID: 25369040Free PMC Article

Diagnosis

Kumar P, Gupta A, Bansal R, Suri D, Gupta V, Gupta A, Singh S
Indian J Pediatr 2022 Apr;89(4):358-363. Epub 2021 Nov 3 doi: 10.1007/s12098-021-03884-5. PMID: 34731440
Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
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

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
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
Song E, Sun H, Xu Y, Ma Y, Zhu H, Pan CW
PLoS One 2014;9(11):e112054. Epub 2014 Nov 4 doi: 10.1371/journal.pone.0112054. PMID: 25369040Free 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

Xiong Z, Li X, Yang D, Xiong C, Xu Q, Zhou Q
Behav Brain Res 2023 Jul 26;450:114455. Epub 2023 May 4 doi: 10.1016/j.bbr.2023.114455. PMID: 37148915
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
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

Clinical prediction guides

Anisimova N, Arbisser L, Tzamalis A, Petrovski BÉ, Shilova N, Petrovski G, Anisimov S, Malyugin B
Semin Ophthalmol 2022 Jan 2;37(1):105-110. Epub 2021 May 29 doi: 10.1080/08820538.2021.1926517. PMID: 34057013
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
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
Rubin GS
Vision Res 2013 Sep 20;90:43-51. Epub 2013 Mar 16 doi: 10.1016/j.visres.2013.02.015. PMID: 23506967
Vasavada AR, Trivedi RH
J Cataract Refract Surg 1999 Nov;25(11):1527-31. doi: 10.1016/s0886-3350(99)00197-2. PMID: 10569170

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
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
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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