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Cataract 17 multiple types(CTRCT17)

MedGen UID:
854781
•Concept ID:
C3888124
•
Disease or Syndrome
Synonyms: CATARACT 17, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE; CATARACT 17, PULVERULENT; Cataract, congenital nuclear, autosomal recessive 3
 
Gene (location): CRYBB1 (22q12.1)
 
Monarch Initiative: MONDO:0012688
OMIM®: 611544

Definition

Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent. The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.' [from OMIM]

Clinical features

From HPO
Amblyopia
MedGen UID:
8009
•Concept ID:
C0002418
•
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Nystagmus
MedGen UID:
45166
•Concept ID:
C0028738
•
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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
Pulverulent cataract
MedGen UID:
318793
•Concept ID:
C1833118
•
Congenital Abnormality
A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.
See: Feature record | Search on this feature

Professional guidelines

PubMed

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

Reasons for choice of glaucoma surgery in eyes not treated with anti-glaucoma medications.
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
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
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
Application of foldable intraocular lens in multiple types of cataract.
Yuan S, Liu Q, Jiang Q, Yuan N
Yan Ke Xue Bao 2002 Mar;18(1):23-6. PMID: 15510670
Risk factors for age-related cataracts.
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

Diagnosis

Astigmatism profile in the elderly population: Tehran Geriatric Eye Study.
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
Reasons for choice of glaucoma surgery in eyes not treated with anti-glaucoma medications.
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
Long-term outcomes and risk factors for failure of glaucoma filtering surgery in eyes with vernal keratoconjunctivitis and steroid-induced glaucoma.
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
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
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP
Neurology 2003 Feb 25;60(4):657-64. doi: 10.1212/01.wnl.0000054481.84978.f9. PMID: 12601109

Therapy

Astigmatism profile in the elderly population: Tehran Geriatric Eye Study.
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
Health impact of smoking and smoking cessation strategies: current evidence.
Duaso M, Duncan D
Br J Community Nurs 2012 Aug;17(8):356-63. doi: 10.12968/bjcn.2012.17.8.356. PMID: 22875209
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
Risk factors for age-related cataracts.
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

Prognosis

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
Health impact of smoking and smoking cessation strategies: current evidence.
Duaso M, Duncan D
Br J Community Nurs 2012 Aug;17(8):356-63. doi: 10.12968/bjcn.2012.17.8.356. PMID: 22875209
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
Application of foldable intraocular lens in multiple types of cataract.
Yuan S, Liu Q, Jiang Q, Yuan N
Yan Ke Xue Bao 2002 Mar;18(1):23-6. PMID: 15510670
Risk factors for age-related cataracts.
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

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
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 age-related cataracts.
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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