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Cataract 10 multiple types(CCZS; CTRCT10)

MedGen UID:
318817
Concept ID:
C1833229
Disease or Syndrome
Synonyms: CATARACT 10, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; Cataract, congenital zonular, with sutural opacities
 
Gene (location): CRYBA1 (17q11.2)
 
Monarch Initiative: MONDO:0010948
OMIM®: 600881

Definition

Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.' [from OMIM]

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.
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.
Zonular cataract
MedGen UID:
350517
Concept ID:
C1861821
Disease or Syndrome
Zonular cataracts are defined to be cataracts that affect specific regions of the lens.
Posterior Y-sutural cataract
MedGen UID:
867202
Concept ID:
C4021560
Pathologic Function
A type of sutural cataract in which the opacity follows the posterior Y suture.

Professional guidelines

PubMed

Lee V, Hungerford JL, Bunce C, Ahmed F, Kingston JE, Plowman PN
Br J Ophthalmol 2003 Nov;87(11):1374-80. doi: 10.1136/bjo.87.11.1374. PMID: 14609838Free PMC Article

Recent clinical studies

Etiology

Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Chou PH, Chu CS, Chen YH, Hsu MY, Huang MW, Lan TH, Lin CH
J Affect Disord 2017 Jun;215:237-244. Epub 2017 Mar 18 doi: 10.1016/j.jad.2017.03.044. PMID: 28342338
Hashemi H, Rezvan F, Etemad K, Gilasi H, Asgari S, Mahdavi A, Mohazab-Torabi S, Yekta A, Khabazkhoob M
Optom Vis Sci 2016 Mar;93(3):266-71. doi: 10.1097/OPX.0000000000000795. PMID: 26760583
Norval M, Lucas RM, Cullen AP, de Gruijl FR, Longstreth J, Takizawa Y, van der Leun JC
Photochem Photobiol Sci 2011 Feb;10(2):199-225. Epub 2011 Jan 20 doi: 10.1039/c0pp90044c. PMID: 21253670
Chung CS, Myrianthopoulos NC
Birth Defects Orig Artic Ser 1975;11(10):1-22. PMID: 130944

Diagnosis

Hashemi H, Asharlous A, Yekta A, Aghamirsalim M, Nabovati P, Sadoughi MM, Khabazkhoob M
Jpn J Ophthalmol 2022 Sep;66(5):461-473. Epub 2022 Aug 10 doi: 10.1007/s10384-022-00936-x. PMID: 35947225
Sugihara K, Fukuda H, Omura T, Tanito M
BMC Ophthalmol 2022 Mar 30;22(1):145. doi: 10.1186/s12886-022-02369-z. PMID: 35354394Free PMC Article
Senthil S, Rao HL, Ali MH, Krishnamurthy R, Dikshit S, Choudhari N, Sastry R, Garudadri C
Indian J Ophthalmol 2022 Mar;70(3):820-825. doi: 10.4103/ijo.IJO_1897_21. PMID: 35225522Free PMC Article
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D
Orphanet J Rare Dis 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. PMID: 26066342Free PMC Article

Therapy

Hashemi H, Asharlous A, Yekta A, Aghamirsalim M, Nabovati P, Sadoughi MM, Khabazkhoob M
Jpn J Ophthalmol 2022 Sep;66(5):461-473. Epub 2022 Aug 10 doi: 10.1007/s10384-022-00936-x. PMID: 35947225
Ahn JH, Kim DH, Shyn KH
Korean J Ophthalmol 2018 Feb;32(1):8-15. Epub 2018 Jan 25 doi: 10.3341/kjo.2017.0010. PMID: 29376229Free PMC Article
Chou PH, Chu CS, Chen YH, Hsu MY, Huang MW, Lan TH, Lin CH
J Affect Disord 2017 Jun;215:237-244. Epub 2017 Mar 18 doi: 10.1016/j.jad.2017.03.044. PMID: 28342338
Hashemi H, Rezvan F, Etemad K, Gilasi H, Asgari S, Mahdavi A, Mohazab-Torabi S, Yekta A, Khabazkhoob M
Optom Vis Sci 2016 Mar;93(3):266-71. doi: 10.1097/OPX.0000000000000795. PMID: 26760583
Norval M, Lucas RM, Cullen AP, de Gruijl FR, Longstreth J, Takizawa Y, van der Leun JC
Photochem Photobiol Sci 2011 Feb;10(2):199-225. Epub 2011 Jan 20 doi: 10.1039/c0pp90044c. PMID: 21253670

Prognosis

Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D
Orphanet J Rare Dis 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. PMID: 26066342Free PMC Article
Khan S, Finger PT, Yu GP, Razzaq L, Jager MJ, de Keizer RJ, Sandkull P, Seregard S, Gologorsky D, Schefler AC, Murray TG, Kivelä T, Giuliari GP, McGowan H, Simpson ER, Corriveau C, Coupland SE, Damato BE
Arch Ophthalmol 2012 Jan;130(1):57-64. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.286. PMID: 21911649
Norval M, Lucas RM, Cullen AP, de Gruijl FR, Longstreth J, Takizawa Y, van der Leun JC
Photochem Photobiol Sci 2011 Feb;10(2):199-225. Epub 2011 Jan 20 doi: 10.1039/c0pp90044c. PMID: 21253670
Evert J, Lawler E, Bogan H, Perls T
J Gerontol A Biol Sci Med Sci 2003 Mar;58(3):232-7. doi: 10.1093/gerona/58.3.m232. PMID: 12634289

Clinical prediction guides

Yotsukura E, Ayaki M, Nezu N, Torii H, Arai H, Sakatani K, Tsubota K, Negishi K
Sci Rep 2020 Oct 14;10(1):17273. doi: 10.1038/s41598-020-72846-2. PMID: 33057036Free PMC Article
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Iwase T, Yamamoto K, Yanagida K, Kobayashi M, Ra E, Murotani K, Terasaki H
Medicine (Baltimore) 2016 Aug;95(32):e4317. doi: 10.1097/MD.0000000000004317. PMID: 27512843Free PMC Article
Moser AB, Steinberg SJ, Watkins PA, Moser HW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG
Lipids Health Dis 2011 Jun 17;10:101. doi: 10.1186/1476-511X-10-101. PMID: 21679470Free PMC Article
Norval M, Lucas RM, Cullen AP, de Gruijl FR, Longstreth J, Takizawa Y, van der Leun JC
Photochem Photobiol Sci 2011 Feb;10(2):199-225. Epub 2011 Jan 20 doi: 10.1039/c0pp90044c. PMID: 21253670

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