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Cataract 3 multiple types(CCA2; CTRCT3)

MedGen UID:
321901
Concept ID:
C1832175
Disease or Syndrome
Synonyms: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; Cataract, congenital, cerulean type, 2; Cataract, sutural, with punctate and cerulean opacities
 
Gene (location): CRYBB2 (22q11.23)
 
Monarch Initiative: MONDO:0011104
OMIM®: 601547

Definition

Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal. Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2. [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.
Congenital blue dot cataract
MedGen UID:
138007
Concept ID:
C0344523
Congenital Abnormality
Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years (Armitage et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.'
Nuclear pulverulent cataract
MedGen UID:
343810
Concept ID:
C1852438
Disease or Syndrome
A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.
Sutural cataract
MedGen UID:
869308
Concept ID:
C4023734
Disease or Syndrome
A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.

Professional guidelines

PubMed

Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Käsmann-Kellner B, Sukhanova NV, Katargina LA, Kutsev SI, Zinchenko RA
J Med Genet 2021 Apr;58(4):270-274. Epub 2020 May 28 doi: 10.1136/jmedgenet-2019-106172. PMID: 32467297
He X, Chen AF, Nirwan RS, Sridhar J, Kuriyan AE
Int Ophthalmol Clin 2020 Summer;60(3):3-15. doi: 10.1097/IIO.0000000000000316. PMID: 32576719Free PMC Article

Recent clinical studies

Etiology

Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Wenninger S, Stahl K, Montagnese F, Schoser B
Eur Neurol 2020;83(5):523-533. Epub 2020 Oct 29 doi: 10.1159/000511237. PMID: 33120389
He X, Chen AF, Nirwan RS, Sridhar J, Kuriyan AE
Int Ophthalmol Clin 2020 Summer;60(3):3-15. doi: 10.1097/IIO.0000000000000316. PMID: 32576719Free PMC Article
Lee JWY, Yick DWF, Tsang S, Yuen CYF, Lai JSM
Medicine (Baltimore) 2016 Apr;95(15):e3212. doi: 10.1097/MD.0000000000003212. PMID: 27082559Free PMC Article
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

Diagnosis

Wenninger S, Stahl K, Montagnese F, Schoser B
Eur Neurol 2020;83(5):523-533. Epub 2020 Oct 29 doi: 10.1159/000511237. PMID: 33120389
Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T
Brain Dev 2016 Mar;38(3):337-40. Epub 2015 Oct 1 doi: 10.1016/j.braindev.2015.09.006. PMID: 26421802
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
Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE
J Mol Neurosci 2011 Nov;45(3):522-31. Epub 2011 Sep 3 doi: 10.1007/s12031-011-9627-y. PMID: 21892620
Lobo A, Barton K, Minassian D, du Bois RM, Lightman S
Clin Exp Ophthalmol 2003 Aug;31(4):310-6. doi: 10.1046/j.1442-9071.2003.00666.x. PMID: 12880455

Therapy

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
He X, Chen AF, Nirwan RS, Sridhar J, Kuriyan AE
Int Ophthalmol Clin 2020 Summer;60(3):3-15. doi: 10.1097/IIO.0000000000000316. PMID: 32576719Free PMC Article
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
Rosenfeld C, Price MO, Lai X, Witzmann FA, Price FW Jr
Mol Vis 2015;21:911-8. Epub 2015 Aug 25 PMID: 26321865Free PMC Article
Lobo A, Barton K, Minassian D, du Bois RM, Lightman S
Clin Exp Ophthalmol 2003 Aug;31(4):310-6. doi: 10.1046/j.1442-9071.2003.00666.x. PMID: 12880455

Prognosis

Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Wenninger S, Stahl K, Montagnese F, Schoser B
Eur Neurol 2020;83(5):523-533. Epub 2020 Oct 29 doi: 10.1159/000511237. PMID: 33120389
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
Pasquale LR, Dolgitser M, Wentzloff JN, Stern LS, Doyle JJ, Chiang TH, Walt JG
Ophthalmology 2008 Apr;115(4):633-638.e4. Epub 2007 Aug 22 doi: 10.1016/j.ophtha.2007.04.059. PMID: 17716736
Lobo A, Barton K, Minassian D, du Bois RM, Lightman S
Clin Exp Ophthalmol 2003 Aug;31(4):310-6. doi: 10.1046/j.1442-9071.2003.00666.x. PMID: 12880455

Clinical prediction guides

He X, Chen AF, Nirwan RS, Sridhar J, Kuriyan AE
Int Ophthalmol Clin 2020 Summer;60(3):3-15. doi: 10.1097/IIO.0000000000000316. PMID: 32576719Free PMC Article
Wan Y, Wang Y, Zhao L, Sun M, An L, Yang Y, Jiang A, Xu Y, Chen Z, Li X
Int Ophthalmol 2020 Jul;40(7):1831-1839. Epub 2020 Apr 5 doi: 10.1007/s10792-020-01353-0. PMID: 32249376Free PMC Article
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
Townend BS, Townend ME, Flood V, Burlutsky G, Rochtchina E, Wang JJ, Mitchell P
Am J Ophthalmol 2007 Jun;143(6):932-939. Epub 2007 Apr 24 doi: 10.1016/j.ajo.2007.03.006. PMID: 17459316
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

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