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Cataract 45(CTRCT45)

MedGen UID:
895198
Concept ID:
C4225182
Disease or Syndrome
Synonym: CTRCT45
 
Gene (location): SIPA1L3 (19q13.13-13.2)
 
Monarch Initiative: MONDO:0014799
OMIM®: 616851

Definition

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene. [from MONDO]

Clinical features

From HPO
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.

Professional guidelines

PubMed

Wang Y, Dong XX, Hou XW, Pan CW
Optom Vis Sci 2023 Sep 1;100(9):606-613. Epub 2023 Sep 26 doi: 10.1097/OPX.0000000000002050. PMID: 37747945
Romano V, Madrid-Costa D, Alfonso JF, Alio J, Allan B, Angunawela R, Auffarth G, Carones F, Khoramnia R, Moore J, Nanavaty MA, Savini G, Pagano L, Romano MR, Virgili G, Fernández-Vega-Cueto L
Am J Ophthalmol 2023 Sep;253:169-180. Epub 2023 May 24 doi: 10.1016/j.ajo.2023.05.002. PMID: 37236521
Asakage T
Int J Clin Oncol 2022 Mar;27(3):465-472. Epub 2022 Jan 14 doi: 10.1007/s10147-021-02093-6. PMID: 35028770

Recent clinical studies

Therapy

Vergroesen JE, Thee EF, de Crom TOE, Kiefte-de Jong JC, Meester-Smoor MA, Voortman T, Klaver CCW, Ramdas WD
Clin Nutr 2023 Dec;42(12):2404-2413. Epub 2023 Oct 12 doi: 10.1016/j.clnu.2023.10.008. PMID: 37865012
Montesano G, Ometto G, Ahmed IIK, Ramulu PY, Chang DF, Crabb DP, Gazzard G
Am J Ophthalmol 2023 Jul;251:143-155. Epub 2023 Feb 21 doi: 10.1016/j.ajo.2023.02.008. PMID: 36813144
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
Croze ML, Soulage CO
Biochimie 2013 Oct;95(10):1811-27. Epub 2013 Jun 10 doi: 10.1016/j.biochi.2013.05.011. PMID: 23764390
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

Prognosis

Vergroesen JE, Thee EF, de Crom TOE, Kiefte-de Jong JC, Meester-Smoor MA, Voortman T, Klaver CCW, Ramdas WD
Clin Nutr 2023 Dec;42(12):2404-2413. Epub 2023 Oct 12 doi: 10.1016/j.clnu.2023.10.008. PMID: 37865012
Ayaz Y, Erkan Pota Ç, Başol İ, Doğan ME, Türkoğlu Şen EB, Ünal M
Int Ophthalmol 2023 Nov;43(11):4279-4287. Epub 2023 Sep 14 doi: 10.1007/s10792-023-02838-4. PMID: 37707746
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
Chong EW, Mehta JS
Curr Opin Ophthalmol 2016 Jan;27(1):45-50. doi: 10.1097/ICU.0000000000000217. PMID: 26569522
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

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
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
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
Chong EW, Mehta JS
Curr Opin Ophthalmol 2016 Jan;27(1):45-50. doi: 10.1097/ICU.0000000000000217. PMID: 26569522

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
Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free 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
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
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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