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Cataract 23(CTRCT23)

MedGen UID:
814342
Concept ID:
C3808012
Disease or Syndrome
Synonyms: CATARACT 23, LAMELLAR; Cataract 23, multiple types; Cataract, lamellar 2; CTRCT23; Microphthalmia, isolated, with cataract 4
 
Gene (location): CRYBA4 (22q12.1)
 
Monarch Initiative: MONDO:0012489
OMIM®: 610425

Definition

Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear. [from OMIM]

Clinical features

From HPO
Cataract 5 multiple types
MedGen UID:
78608
Concept ID:
C0266537
Congenital Abnormality
Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type. The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.

Professional guidelines

PubMed

Li Y, Yip M, Ning Y, Chung J, Toh A, Leow C, Liu N, Ting D, Schmetterer L, Saw SM, Jonas JB, Chia A, Ang M
JAMA Ophthalmol 2024 Jan 1;142(1):15-23. doi: 10.1001/jamaophthalmol.2023.5467. PMID: 38019503Free PMC Article
Hsueh YJ, Chen YN, Tsao YT, Cheng CM, Wu WC, Chen HC
Int J Mol Sci 2022 Jan 23;23(3) doi: 10.3390/ijms23031255. PMID: 35163178Free PMC Article
Cetinel S, Unsworth L, Montemagno C
J Glaucoma 2014 Oct-Nov;23(8 Suppl 1):S73-6. doi: 10.1097/IJG.0000000000000111. PMID: 25275913

Recent clinical studies

Etiology

Mi Y, Wei C, Sun L, Liu H, Zhang J, Luo J, Yu X, He J, Ge H, Liu P
Biomed Pharmacother 2023 Jan;157:114048. Epub 2022 Dec 1 doi: 10.1016/j.biopha.2022.114048. PMID: 36463827
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
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
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
Hylton C, Congdon N, Friedman D, Kempen J, Quigley H, Bass E, Jampel H
Am J Ophthalmol 2003 Feb;135(2):231-2. doi: 10.1016/s0002-9394(02)01919-0. PMID: 12566033

Diagnosis

Mi Y, Wei C, Sun L, Liu H, Zhang J, Luo J, Yu X, He J, Ge H, Liu P
Biomed Pharmacother 2023 Jan;157:114048. Epub 2022 Dec 1 doi: 10.1016/j.biopha.2022.114048. PMID: 36463827
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
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Deng H, Yuan L
Eur J Med Genet 2014 Feb;57(2-3):113-22. Epub 2013 Dec 30 doi: 10.1016/j.ejmg.2013.12.006. PMID: 24384146
Bateman JB, Foos RY
Arch Ophthalmol 1979 Dec;97(12):2379-84. doi: 10.1001/archopht.1979.01020020595020. PMID: 518393

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
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Cetinel S, Unsworth L, Montemagno C
J Glaucoma 2014 Oct-Nov;23(8 Suppl 1):S73-6. doi: 10.1097/IJG.0000000000000111. PMID: 25275913
Fernandez MM, Afshari NA
Curr Opin Ophthalmol 2011 Jan;22(1):2-3. doi: 10.1097/ICU.0b013e3283416742. PMID: 21150604

Prognosis

Hsueh YJ, Chen YN, Tsao YT, Cheng CM, Wu WC, Chen HC
Int J Mol Sci 2022 Jan 23;23(3) doi: 10.3390/ijms23031255. PMID: 35163178Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Sarnicola C, Sarnicola E, Panico E, Panico C, Sarnicola V
Curr Opin Ophthalmol 2020 Jan;31(1):23-27. doi: 10.1097/ICU.0000000000000635. PMID: 31770165
Rao A, Padhy D, Das G, Sarangi S
Semin Ophthalmol 2018;33(4):552-559. Epub 2017 Jun 30 doi: 10.1080/08820538.2017.1339092. PMID: 28665780
Hylton C, Congdon N, Friedman D, Kempen J, Quigley H, Bass E, Jampel H
Am J Ophthalmol 2003 Feb;135(2):231-2. doi: 10.1016/s0002-9394(02)01919-0. PMID: 12566033

Clinical prediction guides

Mi Y, Wei C, Sun L, Liu H, Zhang J, Luo J, Yu X, He J, Ge H, Liu P
Biomed Pharmacother 2023 Jan;157:114048. Epub 2022 Dec 1 doi: 10.1016/j.biopha.2022.114048. PMID: 36463827
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
Hsueh YJ, Chen YN, Tsao YT, Cheng CM, Wu WC, Chen HC
Int J Mol Sci 2022 Jan 23;23(3) doi: 10.3390/ijms23031255. PMID: 35163178Free PMC Article
Sarnicola C, Sarnicola E, Panico E, Panico C, Sarnicola V
Curr Opin Ophthalmol 2020 Jan;31(1):23-27. doi: 10.1097/ICU.0000000000000635. PMID: 31770165
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690

Recent systematic reviews

Chan HN, Zhang XJ, Ling XT, Bui CH, Wang YM, Ip P, Chu WK, Chen LJ, Tham CC, Yam JC, Pang CP
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084226. PMID: 35457041Free PMC Article
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
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
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article

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