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Cataract 32(CTRCT32)

MedGen UID:
340806
Concept ID:
C1855179
Disease or Syndrome; Finding
Synonyms: Anterior polar cataracts 1; CATARACT 32, MULTIPLE TYPES; CATARACT 32, POSTERIOR POLAR; Cataract anterior polar dominant; CATARACT, ANTERIOR POLAR, 1; Cataract, posterior polar, 5; CTRCT32
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Cytogenetic location: 14q22-q23
OMIM®: 115650; 610634
HPO: HP:0001134
Orphanet: ORPHA98988

Definition

A polar cataract that affects the anterior pole of the lens. [from HPO]

Clinical features

Cataract 32
MedGen UID:
340806
Concept ID:
C1855179
Disease or Syndrome
A polar cataract that affects the anterior pole of the lens.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCataract 32

Conditions with this feature

Cataract, zonular
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.
Alport syndrome, autosomal dominant
MedGen UID:
339210
Concept ID:
C1567743
Disease or Syndrome
Alport syndrome (AS) is characterized by renal, cochlear, and ocular involvement. In the absence of treatment, renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with X-linked (XL) AS, and in all males and females with autosomal recessive (AR) AS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with autosomal dominant (AD) AS, ESRD is frequently delayed until later adulthood, SNHL is also relatively late in onset and ocular involvement is rare. Thin basement membrane nephropathy (TBMN) is characterized by persistent microscopic hematuria often first observed in childhood; progressive renal disease is relatively unusual and extrarenal abnormalities are rare.
Anterior polar cataract 2
MedGen UID:
371364
Concept ID:
C1832609
Disease or Syndrome
Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision (Moross et al., 1984). The preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'
Cornea guttata with anterior polar cataract
MedGen UID:
338956
Concept ID:
C1852558
Disease or Syndrome
Metaphyseal dysostosis mental retardation conductive deafness
MedGen UID:
344437
Concept ID:
C1855175
Disease or Syndrome
Cataract 32
MedGen UID:
340806
Concept ID:
C1855179
Disease or Syndrome
A polar cataract that affects the anterior pole of the lens.

Recent clinical studies

Etiology

Zhu Z, Wang L, Young CA, Huang S, Chang BH, He M
Invest Ophthalmol Vis Sci 2016 Apr 1;57(4):2290-5. doi: 10.1167/iovs.15-17673. PMID: 27127927
Rim TH, Yoon CY, Park HW, Chung EJ
Invest Ophthalmol Vis Sci 2016 Mar;57(3):1112-9. doi: 10.1167/iovs.15-18276. PMID: 26975022
Szigiato AA, Trope GE, Jin Y, Buys YM
Can J Ophthalmol 2016 Feb;51(1):7-13. doi: 10.1016/j.jcjo.2015.09.006. PMID: 26874152
Allodji RS, Diallo I, El-Fayech C, Kahlouche A, Dumas A, Schwartz B, Oberlin O, Benadjaoud MA, Labbé M, Jackson A, Bullet J, Rubino C, Haddy N, De Vathaire F
JAMA Ophthalmol 2016 Apr;134(4):390-7. doi: 10.1001/jamaophthalmol.2015.6088. PMID: 26868620
Christen WG, Glynn RJ, Chew EY, Albert CM, Manson JE
Ophthalmic Epidemiol 2016;23(1):32-9. Epub 2016 Jan 20 doi: 10.3109/09286586.2015.1130845. [Epub ahead of print] PMID: 26786311Free PMC Article

Diagnosis

Allodji RS, Diallo I, El-Fayech C, Kahlouche A, Dumas A, Schwartz B, Oberlin O, Benadjaoud MA, Labbé M, Jackson A, Bullet J, Rubino C, Haddy N, De Vathaire F
JAMA Ophthalmol 2016 Apr;134(4):390-7. doi: 10.1001/jamaophthalmol.2015.6088. PMID: 26868620
Christen WG, Glynn RJ, Chew EY, Albert CM, Manson JE
Ophthalmic Epidemiol 2016;23(1):32-9. Epub 2016 Jan 20 doi: 10.3109/09286586.2015.1130845. [Epub ahead of print] PMID: 26786311Free PMC Article
Lai SW, Lin CL, Liao KF, Chang-Ou KC
Parkinsonism Relat Disord 2015 Jan;21(1):68-71. Epub 2014 Nov 15 doi: 10.1016/j.parkreldis.2014.11.005. [Epub ahead of print] PMID: 25466927
Kang EM, Pinheiro SP, Hammad TA, Abou-Ali A
Pharmacoepidemiol Drug Saf 2015 Jan;24(1):38-44. Epub 2014 Nov 26 doi: 10.1002/pds.3726. [Epub ahead of print] PMID: 25425327
Kempen JH, Sugar EA, Varma R, Dunn JP, Heinemann MH, Jabs DA, Lyon AT, Lewis RA; Studies of Ocular Complications of AIDS Research Group
Ophthalmology 2014 Dec;121(12):2317-24. Epub 2014 Aug 8 doi: 10.1016/j.ophtha.2014.06.014. [Epub ahead of print] PMID: 25109932Free PMC Article

Therapy

Rim TH, Yoon CY, Park HW, Chung EJ
Invest Ophthalmol Vis Sci 2016 Mar;57(3):1112-9. doi: 10.1167/iovs.15-18276. PMID: 26975022
Langford-Smith A, Tilakaratna V, Lythgoe PR, Clark SJ, Bishop PN, Day AJ
PLoS One 2016;11(1):e0147576. Epub 2016 Jan 21 doi: 10.1371/journal.pone.0147576. PMID: 26794210Free PMC Article
Christen WG, Glynn RJ, Chew EY, Albert CM, Manson JE
Ophthalmic Epidemiol 2016;23(1):32-9. Epub 2016 Jan 20 doi: 10.3109/09286586.2015.1130845. [Epub ahead of print] PMID: 26786311Free PMC Article
Joshaghani M, Soleimani M, Foroutan A, Yaseri M
Middle East Afr J Ophthalmol 2015 Oct-Dec;22(4):495-501. doi: 10.4103/0974-9233.164610. PMID: 26692724Free PMC Article
Demirkilinc Biler E, Bozbiyik DI, Uretmen O, Kose S
Graefes Arch Clin Exp Ophthalmol 2015 Oct;253(10):1801-7. Epub 2015 Mar 29 doi: 10.1007/s00417-015-2983-5. [Epub ahead of print] PMID: 25819919

Prognosis

Rim TH, Yoon CY, Park HW, Chung EJ
Invest Ophthalmol Vis Sci 2016 Mar;57(3):1112-9. doi: 10.1167/iovs.15-18276. PMID: 26975022
Allodji RS, Diallo I, El-Fayech C, Kahlouche A, Dumas A, Schwartz B, Oberlin O, Benadjaoud MA, Labbé M, Jackson A, Bullet J, Rubino C, Haddy N, De Vathaire F
JAMA Ophthalmol 2016 Apr;134(4):390-7. doi: 10.1001/jamaophthalmol.2015.6088. PMID: 26868620
Christen WG, Glynn RJ, Chew EY, Albert CM, Manson JE
Ophthalmic Epidemiol 2016;23(1):32-9. Epub 2016 Jan 20 doi: 10.3109/09286586.2015.1130845. [Epub ahead of print] PMID: 26786311Free PMC Article
Joshaghani M, Soleimani M, Foroutan A, Yaseri M
Middle East Afr J Ophthalmol 2015 Oct-Dec;22(4):495-501. doi: 10.4103/0974-9233.164610. PMID: 26692724Free PMC Article
Demirkilinc Biler E, Bozbiyik DI, Uretmen O, Kose S
Graefes Arch Clin Exp Ophthalmol 2015 Oct;253(10):1801-7. Epub 2015 Mar 29 doi: 10.1007/s00417-015-2983-5. [Epub ahead of print] PMID: 25819919

Clinical prediction guides

Rim TH, Yoon CY, Park HW, Chung EJ
Invest Ophthalmol Vis Sci 2016 Mar;57(3):1112-9. doi: 10.1167/iovs.15-18276. PMID: 26975022
Allodji RS, Diallo I, El-Fayech C, Kahlouche A, Dumas A, Schwartz B, Oberlin O, Benadjaoud MA, Labbé M, Jackson A, Bullet J, Rubino C, Haddy N, De Vathaire F
JAMA Ophthalmol 2016 Apr;134(4):390-7. doi: 10.1001/jamaophthalmol.2015.6088. PMID: 26868620
Langford-Smith A, Tilakaratna V, Lythgoe PR, Clark SJ, Bishop PN, Day AJ
PLoS One 2016;11(1):e0147576. Epub 2016 Jan 21 doi: 10.1371/journal.pone.0147576. PMID: 26794210Free PMC Article
Chandra A, Raza ST, Abbas S, Singh L, Rizvi S, Ahmed F, Eba A, Mahdi F
Ophthalmic Genet 2016;37(1):19-24. Epub 2014 Apr 22 doi: 10.3109/13816810.2014.907921. [Epub ahead of print] PMID: 24754249
Kang EM, Pinheiro SP, Hammad TA, Abou-Ali A
Pharmacoepidemiol Drug Saf 2015 Jan;24(1):38-44. Epub 2014 Nov 26 doi: 10.1002/pds.3726. [Epub ahead of print] PMID: 25425327

Recent systematic reviews

Zheng LR, Ma JJ, Zhou DX, An LF, Zhang YQ
Graefes Arch Clin Exp Ophthalmol 2014 Aug;252(8):1259-66. Epub 2014 Jun 7 doi: 10.1007/s00417-014-2679-2. [Epub ahead of print] PMID: 24906341
Wu H, Zhang H, Li P, Gao T, Lin J, Yang J, Wu Y, Ye J
Invest Ophthalmol Vis Sci 2014 May 15;55(6):3660-8. doi: 10.1167/iovs.13-13695. PMID: 24833741
Fan F, Luo Y, Lu Y, Liu X
Eur J Ophthalmol 2014 Sep-Oct;24(5):712-7. Epub 2014 Feb 14 doi: 10.5301/ejo.5000441. [Epub ahead of print] PMID: 24557756
Zhu M, Zhu J, Lu L, He X, Zhao R, Zou H
BMC Ophthalmol 2014 Jan 10;14:3. doi: 10.1186/1471-2415-14-3. [Epub ahead of print] PMID: 24410915Free PMC Article
Quek DT, Jap A, Chee SP
Br J Ophthalmol 2011 Nov;95(11):1542-6. Epub 2011 Feb 24 doi: 10.1136/bjo.2010.184796. [Epub ahead of print] PMID: 21349937

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