U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cataract 33(CTRCT33)

MedGen UID:
814437
•Concept ID:
C3808107
•
Disease or Syndrome
Synonyms: CATARACT 33, CORTICAL; Cataract 33, multiple types
 
Gene (location): BFSP1 (20p12.1)
 
Monarch Initiative: MONDO:0012665
OMIM®: 611391

Definition

Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. [from OMIM]

Clinical features

From HPO
Cataract 5 multiple types
MedGen UID:
78608
•Concept ID:
C0266537
•
Congenital Abnormality
Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type. The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.
See: Feature record | Search on this feature
Cortical cataract
MedGen UID:
82868
•Concept ID:
C0271160
•
Acquired Abnormality
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
See: 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

Surgical treatment outcomes of congenital and juvenile cataracts.
Casaer P, Casteels I, Foets B
Bull Soc Belge Ophtalmol 2005;(297):45-57. PMID: 16281733
Prevalence and causes of visual impairment according to World Health Organization and United States criteria in an aged, urban Scandinavian population: the Copenhagen City Eye Study.
Buch H, Vinding T, Nielsen NV
Ophthalmology 2001 Dec;108(12):2347-57. doi: 10.1016/s0161-6420(01)00823-5. PMID: 11733284

Recent clinical studies

Etiology

Best fit formula approach in delayed sequential bilateral cataract surgery.
Röggla V, Langenbucher A, Leydolt C, Schartmüller D, Schwarzenbacher L, Hoffmann P, Menapace R
Clin Exp Ophthalmol 2023 Aug;51(6):559-565. Epub 2023 Jun 1 doi: 10.1111/ceo.14261. PMID: 37264533
Incidence and clinical significance of fovea plana in the French population with age-related cataract.
Lejoyeux R, Bonnin S, Guindolet D, Jacquiod B, Erol O, Le Mer Y, Jeguirim H, Mauget-Faÿsse M, Tadayoni R
Eur J Ophthalmol 2023 Jul;33(4):1683-1686. Epub 2022 Dec 25 doi: 10.1177/11206721221149067. PMID: 36567486
Long-term Outcomes from the HORIZON Randomized Trial for a Schlemm's Canal Microstent in Combination Cataract and Glaucoma Surgery.
Ahmed IIK, De Francesco T, Rhee D, McCabe C, Flowers B, Gazzard G, Samuelson TW, Singh K; HORIZON Investigators
Ophthalmology 2022 Jul;129(7):742-751. Epub 2022 Feb 23 doi: 10.1016/j.ophtha.2022.02.021. PMID: 35218867
The Complications of Myopia: A Review and Meta-Analysis.
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Cataract Surgery Complications in Uveitis Patients: A Review Article.
Llop SM, Papaliodis GN
Semin Ophthalmol 2018;33(1):64-69. Epub 2017 Nov 29 doi: 10.1080/08820538.2017.1353815. PMID: 29185838

Diagnosis

Visual Outcomes and Optical Quality of Accommodative, Multifocal, Extended Depth-of-Focus, and Monofocal Intraocular Lenses in Presbyopia-Correcting Cataract Surgery: A Systematic Review and Bayesian Network Meta-analysis.
Cho JY, Won YK, Park J, Nam JH, Hong JY, Min S, Kim N, Chung TY, Lee EK, Kwon SH, Lim DH
JAMA Ophthalmol 2022 Nov 1;140(11):1045-1053. doi: 10.1001/jamaophthalmol.2022.3667. PMID: 36136323Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Vogt-Koyanagi-Harada syndrome.
Moorthy RS, Inomata H, Rao NA
Surv Ophthalmol 1995 Jan-Feb;39(4):265-92. doi: 10.1016/s0039-6257(05)80105-5. PMID: 7725227
The oculocerebrorenal syndrome of Lowe.
Lavin CW, McKeown CA
Int Ophthalmol Clin 1993 Spring;33(2):179-91. doi: 10.1097/00004397-199303320-00017. PMID: 8325732
Cataracts.
Trevor-Roper PD
Br Med J 1970 Jul 4;3(5713):33-5. doi: 10.1136/bmj.3.5713.33. PMID: 5427488Free PMC Article

Therapy

Topical corticosteroids for dry eye.
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Under-recognized toxicities of cranial irradiation.
Le Guyader M, Antoni D
Cancer Radiother 2021 Oct;25(6-7):713-722. Epub 2021 Jul 14 doi: 10.1016/j.canrad.2021.06.019. PMID: 34274224
The Complications of Myopia: A Review and Meta-Analysis.
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Cataract Surgery Complications in Uveitis Patients: A Review Article.
Llop SM, Papaliodis GN
Semin Ophthalmol 2018;33(1):64-69. Epub 2017 Nov 29 doi: 10.1080/08820538.2017.1353815. PMID: 29185838
Steroids.
Frangie JP, Leibowitz HM
Int Ophthalmol Clin 1993 Fall;33(4):9-29. doi: 10.1097/00004397-199303340-00004. PMID: 8258501

Prognosis

Best fit formula approach in delayed sequential bilateral cataract surgery.
Röggla V, Langenbucher A, Leydolt C, Schartmüller D, Schwarzenbacher L, Hoffmann P, Menapace R
Clin Exp Ophthalmol 2023 Aug;51(6):559-565. Epub 2023 Jun 1 doi: 10.1111/ceo.14261. PMID: 37264533
The Complications of Myopia: A Review and Meta-Analysis.
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Long-term Effect of Intraocular Lens vs Contact Lens Correction on Visual Acuity After Cataract Surgery During Infancy: A Randomized Clinical Trial.
Lambert SR, Cotsonis G, DuBois L, Nizam Ms A, Kruger SJ, Hartmann EE, Weakley DR Jr, Drews-Botsch C; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2020 Apr 1;138(4):365-372. doi: 10.1001/jamaophthalmol.2020.0006. PMID: 32077909Free PMC Article
Improving the drug development process by reducing the impact of adverse events: the case of cataracts considered.
Smith AF, Klotz A, Wormstone IM
Drug Discov Today 2016 Mar;21(3):510-6. Epub 2016 Jan 8 doi: 10.1016/j.drudis.2016.01.001. PMID: 26775751
The construction of sutureless cataract incision and the management of corneal astigmatism.
Hall GW, Krischer C, Mobasher B, Rajan SD
Curr Opin Ophthalmol 1993 Feb;4(1):33-8. doi: 10.1097/00055735-199302000-00007. PMID: 10148289

Clinical prediction guides

Best fit formula approach in delayed sequential bilateral cataract surgery.
Röggla V, Langenbucher A, Leydolt C, Schartmüller D, Schwarzenbacher L, Hoffmann P, Menapace R
Clin Exp Ophthalmol 2023 Aug;51(6):559-565. Epub 2023 Jun 1 doi: 10.1111/ceo.14261. PMID: 37264533
Topical corticosteroids for dry eye.
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study.
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
The construction of sutureless cataract incision and the management of corneal astigmatism.
Hall GW, Krischer C, Mobasher B, Rajan SD
Curr Opin Ophthalmol 1993 Feb;4(1):33-8. doi: 10.1097/00055735-199302000-00007. PMID: 10148289

Recent systematic reviews

Menopausal hormone therapy and women's health: An umbrella review.
Zhang GQ, Chen JL, Luo Y, Mathur MB, Anagnostis P, Nurmatov U, Talibov M, Zhang J, Hawrylowicz CM, Lumsden MA, Critchley H, Sheikh A, Lundbäck B, Lässer C, Kankaanranta H, Lee SH, Nwaru BI
PLoS Med 2021 Aug;18(8):e1003731. Epub 2021 Aug 2 doi: 10.1371/journal.pmed.1003731. PMID: 34339416Free PMC Article
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study.
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...