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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

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
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
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

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free 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
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
Sella R, Afshari NA
Curr Opin Ophthalmol 2019 Jan;30(1):63-69. doi: 10.1097/ICU.0000000000000537. PMID: 30320615
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
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
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
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

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
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
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

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
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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