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Cataract 22 multiple types(CATCN2; CTRCT22)

MedGen UID:
341862
•Concept ID:
C1857853
•
Disease or Syndrome
Synonyms: Cataract 22; CATARACT 22, MULTIPLE TYPES, AUTOSOMAL DOMINANT; CATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE; Cataract, congenital nuclear, autosomal recessive 2
 
Gene (location): CRYBB3 (22q11.23)
 
Monarch Initiative: MONDO:0012336
OMIM®: 609741

Definition

Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.' [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.
See: Feature record | Search on this feature
Glaucoma
MedGen UID:
42224
•Concept ID:
C0017601
•
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
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

Professional guidelines

PubMed

Analysis of genotype-phenotype correlations in PAX6-associated aniridia.
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
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
Refractive outcomes after multifocal intraocular lens exchange.
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
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
Anthropometric status and cataract: the Salisbury Eye Evaluation project.
Caulfield LE, West SK, Barrón Y, Cid-Ruzafa J
Am J Clin Nutr 1999 Feb;69(2):237-42. doi: 10.1093/ajcn/69.2.237. PMID: 9989686

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
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
Refractive outcomes after multifocal intraocular lens exchange.
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
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

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
Outcome of various Hydrophobic Acrylic Intraocular Lens Implantations in Children with Congenital Cataract.
Sukhija J, Kaur S, Ram J, Yangzes S, Madan S, Jinagal J
Eur J Ophthalmol 2017 Nov 8;27(6):711-715. doi: 10.5301/ejo.5000969. PMID: 28430328
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

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
Refractive outcomes after multifocal intraocular lens exchange.
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
A systematic approach to eye muscle surgery for infantile nystagmus syndrome: results in 100 patients.
Hertle RW, Yang D, Tai Z, Carey K, Mitchell E
Binocul Vis Strabismus Q 2010;25(2):72-93. PMID: 20608897
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

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
Refractive outcomes after multifocal intraocular lens exchange.
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
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

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    • ClinVar
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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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