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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.
See: Feature record | Search on this feature
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.
See: Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
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
Globe conserving treatment of the only eye in bilateral retinoblastoma.
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

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
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
Femtosecond laser-assisted cataract surgery for the white cataract.
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
Postoperative posterior capsular striae and the posterior capsular opacification in patients implanted with two types of intraocular lens material.
Joshi RS
Indian J Ophthalmol 2017 Jun;65(6):466-471. doi: 10.4103/ijo.IJO_344_16. PMID: 28643710Free PMC Article
Risk factors for nuclear, cortical and posterior subcapsular cataracts in the Chinese population of Singapore: the Tanjong Pagar Survey.
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
Visual loss in sarcoid-related uveitis.
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

Refractive approaches to visual rehabilitation in patients with keratoconus.
Kim KH, Mian SI
Curr Opin Ophthalmol 2020 Jul;31(4):261-267. doi: 10.1097/ICU.0000000000000675. PMID: 32487813
Femtosecond laser-assisted cataract surgery for the white cataract.
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
Globe conserving treatment of the only eye in bilateral retinoblastoma.
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
Visual loss in sarcoid-related uveitis.
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

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
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
Postoperative posterior capsular striae and the posterior capsular opacification in patients implanted with two types of intraocular lens material.
Joshi RS
Indian J Ophthalmol 2017 Jun;65(6):466-471. doi: 10.4103/ijo.IJO_344_16. PMID: 28643710Free PMC Article
Globe conserving treatment of the only eye in bilateral retinoblastoma.
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
Risk factors for nuclear, cortical and posterior subcapsular cataracts in the Chinese population of Singapore: the Tanjong Pagar Survey.
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
Visual loss in sarcoid-related uveitis.
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

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
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
Femtosecond laser-assisted cataract surgery for the white cataract.
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
Postoperative posterior capsular striae and the posterior capsular opacification in patients implanted with two types of intraocular lens material.
Joshi RS
Indian J Ophthalmol 2017 Jun;65(6):466-471. doi: 10.4103/ijo.IJO_344_16. PMID: 28643710Free PMC Article
Globe conserving treatment of the only eye in bilateral retinoblastoma.
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
Visual loss in sarcoid-related uveitis.
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

Femtosecond laser-assisted cataract surgery for the white cataract.
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
Postoperative posterior capsular striae and the posterior capsular opacification in patients implanted with two types of intraocular lens material.
Joshi RS
Indian J Ophthalmol 2017 Jun;65(6):466-471. doi: 10.4103/ijo.IJO_344_16. PMID: 28643710Free PMC Article
Globe conserving treatment of the only eye in bilateral retinoblastoma.
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
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.
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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    • ClinVar
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    • Gene
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    • GTR
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    • GTR(Clinical)
      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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