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Cataract 30(CTRCT30)

MedGen UID:
811741
Concept ID:
C3805411
Disease or Syndrome
Synonyms: CATARACT 30, PULVERULENT; CTRCT30
 
Gene (location): VIM (10p13)
 
Monarch Initiative: MONDO:0007286
OMIM®: 116300

Definition

Mutations in the VIM gene have been found to cause multiple types of congenital cataract, which have been described as congenital, pulverulent, and posterior polar. [from OMIM]

Clinical features

From HPO
Pulverulent cataract
MedGen UID:
318793
Concept ID:
C1833118
Congenital Abnormality
A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.
Posterior polar cataract
MedGen UID:
376725
Concept ID:
C1850191
Anatomical Abnormality
A polar cataract that affects the posterior pole of the lens.
Diffuse nuclear cataract
MedGen UID:
870376
Concept ID:
C4024821
Disease or Syndrome
Opacity of the entire lens nucleus.

Professional guidelines

PubMed

Huang Y, Linghu M, Hu W, Huang X
J Clin Lab Anal 2022 Dec;36(12):e24774. Epub 2022 Nov 21 doi: 10.1002/jcla.24774. PMID: 36408725Free PMC Article

Recent clinical studies

Etiology

March de Ribot F, de Ribot AM, Walker X, Jamieson H, Cheung G
Australas J Ageing 2023 Sep;42(3):450-454. Epub 2023 May 1 doi: 10.1111/ajag.13208. PMID: 37127536
Lee CS, Gibbons LE, Lee AY, Yanagihara RT, Blazes MS, Lee ML, McCurry SM, Bowen JD, McCormick WC, Crane PK, Larson EB
JAMA Intern Med 2022 Feb 1;182(2):134-141. doi: 10.1001/jamainternmed.2021.6990. PMID: 34870676Free PMC Article
Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I
Neuropediatrics 2021 Aug;52(4):302-309. Epub 2021 Jun 30 doi: 10.1055/s-0041-1728654. PMID: 34192786
Hashemi H, Pakzad R, Yekta A, Aghamirsalim M, Pakbin M, Ramin S, Khabazkhoob M
Eye (Lond) 2020 Aug;34(8):1357-1370. Epub 2020 Feb 13 doi: 10.1038/s41433-020-0806-3. PMID: 32055021Free PMC Article
Pan CW, Cheng CY, Saw SM, Wang JJ, Wong TY
Am J Ophthalmol 2013 Nov;156(5):1021-1033.e1. Epub 2013 Aug 12 doi: 10.1016/j.ajo.2013.06.005. PMID: 23938120

Diagnosis

Lee CS, Gibbons LE, Lee AY, Yanagihara RT, Blazes MS, Lee ML, McCurry SM, Bowen JD, McCormick WC, Crane PK, Larson EB
JAMA Intern Med 2022 Feb 1;182(2):134-141. doi: 10.1001/jamainternmed.2021.6990. PMID: 34870676Free PMC Article
Scheuerle AE
Am J Med Genet A 2019 Aug;179(8):1415-1419. Epub 2019 May 22 doi: 10.1002/ajmg.a.61205. PMID: 31119873
Gali HE, Sella R, Afshari NA
Curr Opin Ophthalmol 2019 Jan;30(1):13-18. doi: 10.1097/ICU.0000000000000542. PMID: 30489359
See CW, Iftikhar M, Woreta FA
Curr Opin Ophthalmol 2019 Jan;30(1):3-8. doi: 10.1097/ICU.0000000000000535. PMID: 30489358
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071

Therapy

Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Lee CS, Gibbons LE, Lee AY, Yanagihara RT, Blazes MS, Lee ML, McCurry SM, Bowen JD, McCormick WC, Crane PK, Larson EB
JAMA Intern Med 2022 Feb 1;182(2):134-141. doi: 10.1001/jamainternmed.2021.6990. PMID: 34870676Free 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
Weikel KA, Garber C, Baburins A, Taylor A
Nutr Rev 2014 Jan;72(1):30-47. Epub 2013 Nov 26 doi: 10.1111/nure.12077. PMID: 24279748Free PMC Article
Pan CW, Cheng CY, Saw SM, Wang JJ, Wong TY
Am J Ophthalmol 2013 Nov;156(5):1021-1033.e1. Epub 2013 Aug 12 doi: 10.1016/j.ajo.2013.06.005. PMID: 23938120

Prognosis

Papaliodis GN, Rosner BA, Dreger KA, Fitzgerald TD, Artornsombudh P, Kothari S, Gangaputra SS, Levy-Clarke GA, Nussenblatt RB, Rosenbaum JT, Sen HN, Suhler EB, Thorne JE, Bhatt NP, Foster CS, Jabs DA, Pak CM, Ying GS, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Research Group
Am J Ophthalmol 2023 Oct;254:221-232. Epub 2023 Jul 5 doi: 10.1016/j.ajo.2023.06.021. PMID: 37414328Free 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
Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM
Eye (Lond) 2016 Sep;30(9):1160-9. Epub 2016 Aug 12 doi: 10.1038/eye.2016.156. PMID: 27518543Free PMC Article
Pan CW, Cheng CY, Saw SM, Wang JJ, Wong TY
Am J Ophthalmol 2013 Nov;156(5):1021-1033.e1. Epub 2013 Aug 12 doi: 10.1016/j.ajo.2013.06.005. PMID: 23938120
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071

Clinical prediction guides

Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Hashemi H, Pakzad R, Yekta A, Aghamirsalim M, Pakbin M, Ramin S, Khabazkhoob M
Eye (Lond) 2020 Aug;34(8):1357-1370. Epub 2020 Feb 13 doi: 10.1038/s41433-020-0806-3. PMID: 32055021Free PMC Article
Gali HE, Sella R, Afshari NA
Curr Opin Ophthalmol 2019 Jan;30(1):13-18. doi: 10.1097/ICU.0000000000000542. PMID: 30489359
Weikel KA, Garber C, Baburins A, Taylor A
Nutr Rev 2014 Jan;72(1):30-47. Epub 2013 Nov 26 doi: 10.1111/nure.12077. PMID: 24279748Free PMC Article
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071

Recent systematic reviews

Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free 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
Hashemi H, Pakzad R, Yekta A, Aghamirsalim M, Pakbin M, Ramin S, Khabazkhoob M
Eye (Lond) 2020 Aug;34(8):1357-1370. Epub 2020 Feb 13 doi: 10.1038/s41433-020-0806-3. PMID: 32055021Free 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
Gillespie LD, Robertson MC, Gillespie WJ, Sherrington C, Gates S, Clemson LM, Lamb SE
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD007146. doi: 10.1002/14651858.CD007146.pub3. PMID: 22972103Free PMC Article

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