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Cataract 32(CTRCT32)

MedGen UID:
854634
Concept ID:
C3887926
Disease or Syndrome
Synonyms: Anterior polar cataracts 1; CATARACT 32, MULTIPLE TYPES; Cataract anterior polar dominant; CATARACT, ANTERIOR POLAR, 1; Cataract, posterior polar, 5; CTRCT32
 
Monarch Initiative: MONDO:0007278
OMIM®: 115650

Definition

A cataract that has material basis in mutation in the region 14q22-q23. [from MONDO]

Clinical features

From HPO
Early-onset anterior polar cataract
MedGen UID:
340806
Concept ID:
C1855179
Congenital Abnormality
A polar cataract that affects the anterior pole of the lens.

Professional guidelines

PubMed

Mistr SK, Trivedi RH, Wilson ME
J AAPOS 2008 Feb;12(1):58-61. Epub 2007 Oct 29 doi: 10.1016/j.jaapos.2007.08.003. PMID: 18029213
Dunn AS, Turpie AG
Arch Intern Med 2003 Apr 28;163(8):901-8. doi: 10.1001/archinte.163.8.901. PMID: 12719198

Recent clinical studies

Etiology

Sadhu S, Dutta Majumder P, Shah M, George R
Ocul Immunol Inflamm 2024 May;32(4):415-418. Epub 2022 Sep 9 doi: 10.1080/09273948.2022.2117707. PMID: 36084279
Xia Y
J Perioper Pract 2022 Dec;32(12):361-367. Epub 2022 Apr 21 doi: 10.1177/17504589221091063. PMID: 35445624
Ahmed IIK, De Francesco T, Rhee D, McCabe C, Flowers B, Gazzard G, Samuelson TW, Singh K; HORIZON Investigators
Ophthalmology 2022 Jul;129(7):742-751. Epub 2022 Feb 23 doi: 10.1016/j.ophtha.2022.02.021. PMID: 35218867
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
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Diagnosis

Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Cho JY, Won YK, Park J, Nam JH, Hong JY, Min S, Kim N, Chung TY, Lee EK, Kwon SH, Lim DH
JAMA Ophthalmol 2022 Nov 1;140(11):1045-1053. doi: 10.1001/jamaophthalmol.2022.3667. PMID: 36136323Free 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
Clemmensen K, Enghild JJ, Ivarsen A, Riise R, Vorum H, Heegaard S
Graefes Arch Clin Exp Ophthalmol 2017 Jan;255(1):119-125. Epub 2016 Nov 5 doi: 10.1007/s00417-016-3539-z. PMID: 27817115
Davenport KM, Patel AA
Pediatr Rev 2011 Feb;32(2):82-3. doi: 10.1542/pir.32-2-82. PMID: 21285306

Therapy

Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Cho JY, Won YK, Park J, Nam JH, Hong JY, Min S, Kim N, Chung TY, Lee EK, Kwon SH, Lim DH
JAMA Ophthalmol 2022 Nov 1;140(11):1045-1053. doi: 10.1001/jamaophthalmol.2022.3667. PMID: 36136323Free PMC Article
Ahmed IIK, De Francesco T, Rhee D, McCabe C, Flowers B, Gazzard G, Samuelson TW, Singh K; HORIZON Investigators
Ophthalmology 2022 Jul;129(7):742-751. Epub 2022 Feb 23 doi: 10.1016/j.ophtha.2022.02.021. PMID: 35218867
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
Hatch M, Cardis E
Eur J Epidemiol 2017 Dec;32(12):1047-1054. Epub 2017 Sep 19 doi: 10.1007/s10654-017-0303-6. PMID: 28929329

Prognosis

Rao A, Khan S, Mukherjee S
PLoS One 2023;18(5):e0286020. Epub 2023 May 19 doi: 10.1371/journal.pone.0286020. PMID: 37205654Free PMC Article
Wang Q, Zhang S, Wang Y, Zhao D, Zhou C
JMIR Public Health Surveill 2022 Nov 14;8(11):e39314. doi: 10.2196/39314. PMID: 36374533Free PMC Article
Arriola-Villalobos P, Moll-Udina A, Carrasco-López-Brea M, Sacristan C, Capella MJ, Peiteado D, Garrote-Llordén A, Albert Fort M, Jódar Márquez M, Jacobo Gonzalez Guijarro J, Demetrio-Pablo R, Luis Sánchez Sevilla J, Carreño E, González-López J, Miguel-Escuder L, Cuadros C, Díaz-Valle D, Adan A; Contributors: VKH Spanish Study Group, Benítez Del Castillo JM, Fonollosa A, Cordero M, Martínez Costa L, Blanco-Alonso R
Eur J Ophthalmol 2022 May;32(3):1547-1554. Epub 2021 Jul 16 doi: 10.1177/11206721211033477. PMID: 34269103
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
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Clinical prediction guides

Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Wang Q, Zhang S, Wang Y, Zhao D, Zhou C
JMIR Public Health Surveill 2022 Nov 14;8(11):e39314. doi: 10.2196/39314. PMID: 36374533Free 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
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):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Recent systematic reviews

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
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):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free 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
Rice JB, White AG, Scarpati LM, Wan G, Nelson WW
Clin Ther 2017 Nov;39(11):2216-2229. Epub 2017 Oct 19 doi: 10.1016/j.clinthera.2017.09.011. PMID: 29055500
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

Supplemental Content

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