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Cataract 5 multiple types(CTRCT5)

MedGen UID:
78608
Concept ID:
C0266537
Congenital Abnormality; Finding
Synonyms: CATARACT 5, LAMELLAR; CATARACT, MARNER TYPE; CTRCT5; Lamellar cataract; Perinuclear cataract
SNOMED CT: Congenital lamellar cataract (204128001); Lamellar cataract (204128001); Congenital zonular cataract (21590003)
 
Gene (location): HSF4 (16q22.1)
 
HPO: HP:0007971
Monarch Initiative: MONDO:0007290
OMIM®: 116800

Definition

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. [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.
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.
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.
Early-onset anterior polar cataract
MedGen UID:
340806
Concept ID:
C1855179
Congenital Abnormality
A polar cataract that affects the anterior pole of the lens.
Zonular cataract
MedGen UID:
350517
Concept ID:
C1861821
Disease or Syndrome
Zonular cataracts are defined to be cataracts that affect specific regions of the lens.

Term Hierarchy

Conditions with this feature

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.
Cataract 20 multiple types
MedGen UID:
101117
Concept ID:
C0524524
Disease or Syndrome
Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, peripheral cortical, sutural, and lamellar.
Cataract-hypertrichosis-intellectual disability syndrome
MedGen UID:
167117
Concept ID:
C0796282
Disease or Syndrome
This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Cataract 23
MedGen UID:
814342
Concept ID:
C3808012
Disease or Syndrome
Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.
Cataract 33
MedGen UID:
814437
Concept ID:
C3808107
Disease or Syndrome
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.
Cataract 39 multiple types
MedGen UID:
815130
Concept ID:
C3808800
Disease or Syndrome
Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.
Cataract 15 multiple types
MedGen UID:
815331
Concept ID:
C3809001
Disease or Syndrome
Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
Fan H, Han X, Shang X, Zhu Z, He M, Xu G, Chen Z, Deng R
Eye (Lond) 2023 Oct;37(15):3234-3242. Epub 2023 Mar 27 doi: 10.1038/s41433-023-02498-9. PMID: 36973404Free PMC Article
Wenninger S, Stahl K, Montagnese F, Schoser B
Eur Neurol 2020;83(5):523-533. Epub 2020 Oct 29 doi: 10.1159/000511237. PMID: 33120389
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
Lee JWY, Yick DWF, Tsang S, Yuen CYF, Lai JSM
Medicine (Baltimore) 2016 Apr;95(15):e3212. doi: 10.1097/MD.0000000000003212. PMID: 27082559Free PMC Article

Diagnosis

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
Wenninger S, Stahl K, Montagnese F, Schoser B
Eur Neurol 2020;83(5):523-533. Epub 2020 Oct 29 doi: 10.1159/000511237. PMID: 33120389
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
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
Cumming RG, Mitchell P, Smith W
Ophthalmology 2000 Mar;107(3):450-6. doi: 10.1016/s0161-6420(99)00024-x. PMID: 10711880

Therapy

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
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
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
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
Schoenfeld ER, Leske MC, Wu SY
J Am Coll Nutr 1993 Oct;12(5):521-6. doi: 10.1080/07315724.1993.10718346. PMID: 8263267

Prognosis

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
Wenninger S, Stahl K, Montagnese F, Schoser B
Eur Neurol 2020;83(5):523-533. Epub 2020 Oct 29 doi: 10.1159/000511237. PMID: 33120389
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
Khan S, Finger PT, Yu GP, Razzaq L, Jager MJ, de Keizer RJ, Sandkull P, Seregard S, Gologorsky D, Schefler AC, Murray TG, Kivelä T, Giuliari GP, McGowan H, Simpson ER, Corriveau C, Coupland SE, Damato BE
Arch Ophthalmol 2012 Jan;130(1):57-64. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.286. PMID: 21911649
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

Yotsukura E, Ayaki M, Nezu N, Torii H, Arai H, Sakatani K, Tsubota K, Negishi K
Sci Rep 2020 Oct 14;10(1):17273. doi: 10.1038/s41598-020-72846-2. PMID: 33057036Free PMC Article
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
Townend BS, Townend ME, Flood V, Burlutsky G, Rochtchina E, Wang JJ, Mitchell P
Am J Ophthalmol 2007 Jun;143(6):932-939. Epub 2007 Apr 24 doi: 10.1016/j.ajo.2007.03.006. PMID: 17459316
Lee KW, Seomun Y, Kim DH, Park SY, Joo CK
Yonsei Med J 2004 Apr 30;45(2):219-28. doi: 10.3349/ymj.2004.45.2.219. PMID: 15118992

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