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Cataract 31 multiple types(CTRCT31)

MedGen UID:
343089
Concept ID:
C1854311
Disease or Syndrome
Synonyms: CATARACT 31, POSTERIOR POLAR; Cataract, posterior polar, 3; CTRCT31
 
Gene (location): CHMP4B (20q11.22)
 
Monarch Initiative: MONDO:0011547
OMIM®: 605387

Definition

Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.' [from OMIM]

Clinical features

From HPO
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.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Anterior subcapsular cataract
MedGen UID:
207277
Concept ID:
C1112768
Disease or Syndrome
A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.

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
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

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
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
Tung TH, Liu JH, Lee FL, Chen SJ, Tsai CY, Chou P
Eur J Epidemiol 2005;20(5):435-41. doi: 10.1007/s10654-004-7537-9. PMID: 16080592
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
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

Diagnosis

Kim KH, Mian SI
Curr Opin Ophthalmol 2020 Jul;31(4):261-267. doi: 10.1097/ICU.0000000000000675. PMID: 32487813
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
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
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

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
Joshi RS
Indian J Ophthalmol 2017 Jun;65(6):466-471. doi: 10.4103/ijo.IJO_344_16. PMID: 28643710Free PMC Article
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
Foster PJ, Wong TY, Machin D, Johnson GJ, Seah SK
Br J Ophthalmol 2003 Sep;87(9):1112-20. doi: 10.1136/bjo.87.9.1112. PMID: 12928278Free 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
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
Joshi RS
Indian J Ophthalmol 2017 Jun;65(6):466-471. doi: 10.4103/ijo.IJO_344_16. PMID: 28643710Free PMC Article
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
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

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
Joshi RS
Indian J Ophthalmol 2017 Jun;65(6):466-471. doi: 10.4103/ijo.IJO_344_16. PMID: 28643710Free PMC Article
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
Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH
Hum Genet 1990 Nov;86(1):54-8. doi: 10.1007/BF00205172. PMID: 1979306

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