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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.
See: Feature record | Search on this feature
Posterior polar cataract
MedGen UID:
376725
•Concept ID:
C1850191
•
Anatomical Abnormality
A polar cataract that affects the posterior pole of the lens.
See: Feature record | Search on this feature
Diffuse nuclear cataract
MedGen UID:
870376
•Concept ID:
C4024821
•
Disease or Syndrome
Opacity of the entire lens nucleus.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Conbercept improves macular microcirculation and retinal blood supply in the treatment of nonischemic branch retinal vein occlusion macular edema.
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

Association Between Cataract Extraction and Development of Dementia.
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
Global and regional prevalence of age-related cataract: a comprehensive systematic review and meta-analysis.
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
A novel capsulorhexis technique in white cataract surgery.
Daglioglu MC, Coskun M, Ilhan O, Ayhan Tuzcu E, Ilhan N, Ayintap E, Taskin I, Oksuz H
Semin Ophthalmol 2015 Jul;30(4):264-7. Epub 2014 Jan 10 doi: 10.3109/08820538.2013.839809. PMID: 24409937
Repeatability of lens densitometry using Scheimpflug imaging.
Weiner X, Baumeister M, Kohnen T, Bühren J
J Cataract Refract Surg 2014 May;40(5):756-63. doi: 10.1016/j.jcrs.2013.10.039. PMID: 24767909
Secondary Glaucoma.
Agarwal HC, Sood NN, Kalra BR, Ghosh B
Indian J Ophthalmol 1982 May;30(3):121-4. PMID: 7174052

Diagnosis

Association Between Cataract Extraction and Development of Dementia.
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
Cataract grading systems: a review of past and present.
Gali HE, Sella R, Afshari NA
Curr Opin Ophthalmol 2019 Jan;30(1):13-18. doi: 10.1097/ICU.0000000000000542. PMID: 30489359
Long-term follow-up of epikeratophakia.
Kang J, Cabot F, Yoo SH
J Cataract Refract Surg 2015 Mar;41(3):670-3. Epub 2014 Dec 20 doi: 10.1016/j.jcrs.2014.11.035. PMID: 25535108
Repeatability of lens densitometry using Scheimpflug imaging.
Weiner X, Baumeister M, Kohnen T, Bühren J
J Cataract Refract Surg 2014 May;40(5):756-63. doi: 10.1016/j.jcrs.2013.10.039. PMID: 24767909
Congenital and infantile cataract: aetiology and management.
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

High ambient temperature may induce presbyopia via TRPV1 activation.
Nakazawa Y, Kuno Y, Shimada H, Nagai N, Hiramatsu N, Takeda S, Yamamoto N, Funakoshi-Tago M, Sasaki H
Med Mol Morphol 2024 Dec;57(4):268-276. Epub 2024 Jul 9 doi: 10.1007/s00795-024-00391-2. PMID: 38980406
Topical corticosteroids for dry eye.
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
Association Between Cataract Extraction and Development of Dementia.
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
Designation of imidazole-containing dipeptides as pharmacological chaperones.
Babizhayev MA
Hum Exp Toxicol 2011 Jul;30(7):736-61. Epub 2010 Jul 23 doi: 10.1177/0960327110377526. PMID: 20656726
Cataract and latitude.
Javitt JC, Taylor HR
Doc Ophthalmol 1994-1995;88(3-4):307-25. doi: 10.1007/BF01203684. PMID: 7634999

Prognosis

Long-term Effect of Intraocular Lens vs Contact Lens Correction on Visual Acuity After Cataract Surgery During Infancy: A Randomized Clinical Trial.
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
Risk factors for ocular complications in adult patients with uveitis.
Prieto-Del-Cura M, González-Guijarro JJ
Eur J Ophthalmol 2020 Nov;30(6):1381-1389. Epub 2020 Jan 5 doi: 10.1177/1120672119899379. PMID: 31902244
Long-term follow-up of epikeratophakia.
Kang J, Cabot F, Yoo SH
J Cataract Refract Surg 2015 Mar;41(3):670-3. Epub 2014 Dec 20 doi: 10.1016/j.jcrs.2014.11.035. PMID: 25535108
Congenital and infantile cataract: aetiology and management.
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
Cataracts in children.
Calhoun JH
Pediatr Clin North Am 1983 Dec;30(6):1061-9. doi: 10.1016/s0031-3955(16)34502-3. PMID: 6646865

Clinical prediction guides

Topical corticosteroids for dry eye.
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
Deamidation of the human eye lens protein γS-crystallin accelerates oxidative aging.
Norton-Baker B, Mehrabi P, Kwok AO, Roskamp KW, Rocha MA, Sprague-Piercy MA, von Stetten D, Miller RJD, Martin RW
Structure 2022 May 5;30(5):763-776.e4. Epub 2022 Mar 25 doi: 10.1016/j.str.2022.03.002. PMID: 35338852Free PMC Article
Global and regional prevalence of age-related cataract: a comprehensive systematic review and meta-analysis.
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
Cataract grading systems: a review of past and present.
Gali HE, Sella R, Afshari NA
Curr Opin Ophthalmol 2019 Jan;30(1):13-18. doi: 10.1097/ICU.0000000000000542. PMID: 30489359
Congenital and infantile cataract: aetiology and management.
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

Identified risk factors for dry eye syndrome: A systematic review and meta-analysis.
Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free PMC Article
Menopausal hormone therapy and women's health: An umbrella review.
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
Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study.
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
Global and regional prevalence of age-related cataract: a comprehensive systematic review and meta-analysis.
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
Long-term Systemic Corticosteroid Exposure: A Systematic Literature Review.
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

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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