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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:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
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

Barraquer RI, Pinilla Cortés L, Allende MJ, Montenegro GA, Ivankovic B, D'Antin JC, Martínez Osorio H, Michael R
Ophthalmic Res 2017;57(4):247-251. Epub 2017 Mar 14 doi: 10.1159/000456720. PMID: 28288454
Stojanovic NR, Feingold V, Pallikaris IG
J Refract Surg 2016 May 1;32(5):318-25. doi: 10.3928/1081597X-20160225-02. PMID: 27163617
Yesilirmak N, Chhadva P, Diakonis VF, Waren DP, Yoo SH, Donaldson KE
J Refract Surg 2016 May 1;32(5):306-10. doi: 10.3928/1081597X-20160217-07. PMID: 27163615
Panday M, George R, Asokan R, Ve Ramesh S, Velumuri L, Choudhari NS, Boddupalli SD, Sunil GT, Vijaya L
Clin Exp Ophthalmol 2016 Mar;44(2):114-20. Epub 2015 Oct 12 doi: 10.1111/ceo.12636. PMID: 26290386
Chang JR, Koo E, Agrón E, Hallak J, Clemons T, Azar D, Sperduto RD, Ferris FL 3rd, Chew EY; Age-Related Eye Disease Study Group.
Ophthalmology 2011 Nov;118(11):2113-9. doi: 10.1016/j.ophtha.2011.03.032. PMID: 21684602Free PMC Article

Diagnosis

Barraquer RI, Pinilla Cortés L, Allende MJ, Montenegro GA, Ivankovic B, D'Antin JC, Martínez Osorio H, Michael R
Ophthalmic Res 2017;57(4):247-251. Epub 2017 Mar 14 doi: 10.1159/000456720. PMID: 28288454
Singh MP, Ram J, Kumar A, Khurana J, Marbaniang M, Ratho RK
Diagn Microbiol Infect Dis 2016 Aug;85(4):477-81. Epub 2016 May 12 doi: 10.1016/j.diagmicrobio.2016.05.007. PMID: 27236713
Stojanovic NR, Feingold V, Pallikaris IG
J Refract Surg 2016 May 1;32(5):318-25. doi: 10.3928/1081597X-20160225-02. PMID: 27163617
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. PMID: 26786311Free PMC Article

Therapy

Yesilirmak N, Chhadva P, Diakonis VF, Waren DP, Yoo SH, Donaldson KE
J Refract Surg 2016 May 1;32(5):306-10. doi: 10.3928/1081597X-20160217-07. PMID: 27163615
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
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. PMID: 26786311Free 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. PMID: 25819919
Chang JR, Koo E, Agrón E, Hallak J, Clemons T, Azar D, Sperduto RD, Ferris FL 3rd, Chew EY; Age-Related Eye Disease Study Group.
Ophthalmology 2011 Nov;118(11):2113-9. doi: 10.1016/j.ophtha.2011.03.032. PMID: 21684602Free PMC Article

Prognosis

Barraquer RI, Pinilla Cortés L, Allende MJ, Montenegro GA, Ivankovic B, D'Antin JC, Martínez Osorio H, Michael R
Ophthalmic Res 2017;57(4):247-251. Epub 2017 Mar 14 doi: 10.1159/000456720. PMID: 28288454
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
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. PMID: 26786311Free PMC Article
Panday M, George R, Asokan R, Ve Ramesh S, Velumuri L, Choudhari NS, Boddupalli SD, Sunil GT, Vijaya L
Clin Exp Ophthalmol 2016 Mar;44(2):114-20. Epub 2015 Oct 12 doi: 10.1111/ceo.12636. PMID: 26290386
Chang JR, Koo E, Agrón E, Hallak J, Clemons T, Azar D, Sperduto RD, Ferris FL 3rd, Chew EY; Age-Related Eye Disease Study Group.
Ophthalmology 2011 Nov;118(11):2113-9. doi: 10.1016/j.ophtha.2011.03.032. PMID: 21684602Free PMC Article

Clinical prediction guides

Barraquer RI, Pinilla Cortés L, Allende MJ, Montenegro GA, Ivankovic B, D'Antin JC, Martínez Osorio H, Michael R
Ophthalmic Res 2017;57(4):247-251. Epub 2017 Mar 14 doi: 10.1159/000456720. PMID: 28288454
Stojanovic NR, Feingold V, Pallikaris IG
J Refract Surg 2016 May 1;32(5):318-25. doi: 10.3928/1081597X-20160225-02. PMID: 27163617
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
Galliot F, Patel SR, Cochener B
J Refract Surg 2016 Feb;32(2):96-102. doi: 10.3928/1081597X-20151222-02. PMID: 26856426

Recent systematic reviews

Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM
Eye (Lond) 2016 Sep;30(9):1160-9. Epub 2016 Aug 12 doi: 10.1038/eye.2016.156. PMID: 27518543Free PMC Article
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. 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
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. PMID: 21349937
Zhao J, Ellwein LB, Cui H, Ge J, Guan H, Lv J, Ma X, Yin J, Yin ZQ, Yuan Y, Liu H
Ophthalmology 2010 Nov;117(11):2120-8. Epub 2010 Jul 21 doi: 10.1016/j.ophtha.2010.03.005. PMID: 20663565

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