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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Management of descemetocele: Our experience and a simplified treatment algorithm.
Shankar S, Agarwal R, Nagpal R, Maharana PK, Goel S, Sinha R, Agarwal T, Titiyal JS, Sharma N
Indian J Ophthalmol 2022 May;70(5):1564-1570. doi: 10.4103/ijo.IJO_3070_21. PMID: 35502027Free PMC Article
Epidemiology and treatment of head and neck malignancies in the AYA generation.
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
An algorithm for the preoperative diagnosis and treatment of ocular surface disorders.
Starr CE, Gupta PK, Farid M, Beckman KA, Chan CC, Yeu E, Gomes JAP, Ayers BD, Berdahl JP, Holland EJ, Kim T, Mah FS; ASCRS Cornea Clinical Committee
J Cataract Refract Surg 2019 May;45(5):669-684. doi: 10.1016/j.jcrs.2019.03.023. PMID: 31030780

Recent clinical studies

Etiology

Congenital Aniridia and Ocular motility.
Alafaleq M, Sordello L, Bremond-Gignac D
Am J Ophthalmol 2023 Mar;247:145-151. Epub 2022 Nov 11 doi: 10.1016/j.ajo.2022.11.003. PMID: 36375586
Marijuana smoking and cataract.
Lehrer S, Rheinstein PH
J Fr Ophtalmol 2022 Mar;45(3):267-271. Epub 2022 Jan 31 doi: 10.1016/j.jfo.2021.12.008. PMID: 35093261Free 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
Cortical Cataract and Refractive Error.
Michael R, Pareja-Aricò L, Rauscher FG, Barraquer RI
Ophthalmic Res 2019;62(3):157-165. Epub 2019 Mar 28 doi: 10.1159/000496865. PMID: 30921809
Cataract and Cataract Surgery: Nationwide Prevalence and Clinical Determinants.
Park SJ, Lee JH, Kang SW, Hyon JY, Park KH
J Korean Med Sci 2016 Jun;31(6):963-71. Epub 2016 Apr 5 doi: 10.3346/jkms.2016.31.6.963. PMID: 27247507Free PMC Article

Diagnosis

Cerulean cataract.
Belabbes MB, Taouri N
Pan Afr Med J 2023;45:16. Epub 2023 May 5 doi: 10.11604/pamj.2023.45.16.39806. PMID: 37426466Free PMC Article
Marijuana smoking and cataract.
Lehrer S, Rheinstein PH
J Fr Ophtalmol 2022 Mar;45(3):267-271. Epub 2022 Jan 31 doi: 10.1016/j.jfo.2021.12.008. PMID: 35093261Free PMC Article
Phacoemulsification of posterior polar cataracts.
Foster GJL, Ayers B, Fram N, Hoffman RS, Khandewal S, Ogawa G, MacDonald SM, Snyder ME, Vasavada A
J Cataract Refract Surg 2019 Feb;45(2):228-235. doi: 10.1016/j.jcrs.2018.09.029. PMID: 30704728
"Ant-egg" cataract revisited.
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
Exfoliation syndrome.
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

Therapy

The inflammatory potential of diet is associated with the risk of age-related eye diseases.
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
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
Marijuana smoking and cataract.
Lehrer S, Rheinstein PH
J Fr Ophtalmol 2022 Mar;45(3):267-271. Epub 2022 Jan 31 doi: 10.1016/j.jfo.2021.12.008. PMID: 35093261Free PMC Article
Potential role and therapeutic interests of myo-inositol in metabolic diseases.
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
Interventions for preventing falls in older people living in the community.
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

The inflammatory potential of diet is associated with the risk of age-related eye diseases.
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
Dual Sensory Impairment as a Predictor of Loneliness and Isolation in Older Adults: National Cohort Study.
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
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
High myopia and cataract surgery.
Chong EW, Mehta JS
Curr Opin Ophthalmol 2016 Jan;27(1):45-50. doi: 10.1097/ICU.0000000000000217. PMID: 26569522
Exfoliation syndrome.
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

Clinical features of infectious uveitis in a Tunisian population.
Maamouri R, Beldi M, Houman Y, Somai M, Boussema F, Cheour M
Tunis Med 2023 Feb 11;101(2):259-265. PMID: 37682270Free PMC Article
Dual Sensory Impairment as a Predictor of Loneliness and Isolation in Older Adults: National Cohort Study.
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
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
Marijuana smoking and cataract.
Lehrer S, Rheinstein PH
J Fr Ophtalmol 2022 Mar;45(3):267-271. Epub 2022 Jan 31 doi: 10.1016/j.jfo.2021.12.008. PMID: 35093261Free 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

Recent systematic reviews

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
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
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
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.
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
Interventions for preventing falls in older people living in the community.
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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      Related information in GTR
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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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