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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.
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.
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.

Professional guidelines

PubMed

Casaer P, Casteels I, Foets B
Bull Soc Belge Ophtalmol 2005;(297):45-57. PMID: 16281733
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

Tan QQ, Lewis JS, Lan CJ, Liao X, Tang XL, Wang J, Aljohani S, Scheiman MM
Ophthalmic Physiol Opt 2022 Sep;42(5):998-1008. Epub 2022 Jun 12 doi: 10.1111/opo.13012. PMID: 35690924Free PMC Article
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
Liu X, Liu X, Wang Y, Sun H, Guo Z, Tang X, Li J, Xiao X, Zheng S, Yu M, He C, Xu J, Sun W
Mol Cell Proteomics 2021;20:100117. Epub 2021 Jun 30 doi: 10.1016/j.mcpro.2021.100117. PMID: 34214668Free PMC Article
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
Rao A, Padhy D, Das G, Sarangi S
Semin Ophthalmol 2018;33(4):552-559. Epub 2017 Jun 30 doi: 10.1080/08820538.2017.1339092. PMID: 28665780

Diagnosis

Salabati M, Mahmoudzadeh R, Wakabayashi T, Hinkle JW, Ho AC
Curr Opin Ophthalmol 2022 Jan 1;33(1):15-20. doi: 10.1097/ICU.0000000000000823. PMID: 34743089
Soifer M, Mousa HM, Jammal AA, Savarain C, Perez VL
Am J Ophthalmol 2022 Feb;234:250-258. Epub 2021 Oct 12 doi: 10.1016/j.ajo.2021.10.004. PMID: 34653354
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
Bouffard MA, Cestari DM
Semin Ophthalmol 2018;33(1):11-16. Epub 2017 Oct 9 doi: 10.1080/08820538.2017.1353806. PMID: 28990829
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

Therapy

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
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
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
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
Gower EW, Lindsley K, Tulenko SE, Nanji AA, Leyngold I, McDonnell PJ
Cochrane Database Syst Rev 2017 Feb 13;2(2):CD006364. doi: 10.1002/14651858.CD006364.pub3. PMID: 28192644Free PMC Article

Prognosis

He X, Huang AS, Jeng BH
Curr Opin Ophthalmol 2022 Jan 1;33(1):9-14. doi: 10.1097/ICU.0000000000000814. PMID: 34698670
Gautam Seth N, Kaur S, Yangzes S, Jugran D, Bansal R, Gupta V, Dogra MR, Suri D, Singh S, Singh R
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1375-1380. Epub 2020 Jul 10 doi: 10.1080/09273948.2020.1762897. PMID: 32649841
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
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
Rao A, Padhy D, Das G, Sarangi S
Semin Ophthalmol 2018;33(4):552-559. Epub 2017 Jun 30 doi: 10.1080/08820538.2017.1339092. PMID: 28665780

Clinical prediction guides

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
He X, Huang AS, Jeng BH
Curr Opin Ophthalmol 2022 Jan 1;33(1):9-14. doi: 10.1097/ICU.0000000000000814. PMID: 34698670
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
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
Arch Ophthalmol 1995 Dec;113(12):1479-96. PMID: 7487614

Recent 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
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
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
Gillespie LD, Robertson MC, Gillespie WJ, Sherrington C, Gates S, Clemson LM, Lamb SE
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD007146. doi: 10.1002/14651858.CD007146.pub3. PMID: 22972103Free PMC Article
Pascolini D, Mariotti SP
Br J Ophthalmol 2012 May;96(5):614-8. Epub 2011 Dec 1 doi: 10.1136/bjophthalmol-2011-300539. PMID: 22133988

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