메뉴 건너뛰기




Volumn 34, Issue , 2015, Pages S24-S34

Genetics of congenital corneal opacification - Impact on diagnosis and treatment

Author keywords

Aniridia; Axenfeld Rieger anomaly; B3GALTL; Congenital corneal opacity; Cornea plana; Corneal dermoid; Corneal dystrophy; Encephalocraniocutaneous syndrome; Forceps injury; FOXC1; FOXE3; Iridocorneal adhesion; Keratolenticular adhesion; MIDAS syndrome; MLS syndrome; Neonatal corneal opacity; PAX6; Peripheral sclerocornea; Peters anomaly; Peters plus syndrome; PITX2; Primary aphakia; Primary congenital glaucoma; Sclerocornea; SLC4A11; ZEB1

Indexed keywords

CYTOCHROME P450 1B1;

EID: 84965169856     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0000000000000552     Document Type: Review
Times cited : (52)

References (51)
  • 1
    • 0036147021 scopus 로고    scopus 로고
    • Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy
    • Nischal KK, Naor J, Jay V, et al. Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmol. 2002;86:62-69.
    • (2002) Br J Ophthalmol. , vol.86 , pp. 62-69
    • Nischal, K.K.1    Naor, J.2    Jay, V.3
  • 2
    • 53949108516 scopus 로고    scopus 로고
    • A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly
    • Weisschuh N, Wolf C, Wissinger B, et al. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. Clin Genet. 2008;74:476-480.
    • (2008) Clin Genet. , vol.74 , pp. 476-480
    • Weisschuh, N.1    Wolf, C.2    Wissinger, B.3
  • 3
    • 33646696210 scopus 로고    scopus 로고
    • Further support of the role of CYP1B1 in patients with Peters anomaly
    • Vincent A, Billingsley G, Priston M, et al. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis. 2006;12:506-510.
    • (2006) Mol Vis. , vol.12 , pp. 506-510
    • Vincent, A.1    Billingsley, G.2    Priston, M.3
  • 4
    • 83455255312 scopus 로고    scopus 로고
    • Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients
    • Zhang X, Tong Y, Xu W, et al. Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. Eye (Lond). 2011;25:1581-1589.
    • (2011) Eye (Lond) , vol.25 , pp. 1581-1589
    • Zhang, X.1    Tong, Y.2    Xu, W.3
  • 5
    • 77049109435 scopus 로고    scopus 로고
    • Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous
    • Arikawa A, Yoshida S, Yoshikawa H, et al. Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. Eye (Lond). 2010;24:391-393.
    • (2010) Eye (Lond) , vol.24 , pp. 391-393
    • Arikawa, A.1    Yoshida, S.2    Yoshikawa, H.3
  • 6
    • 84920418405 scopus 로고    scopus 로고
    • Whole exome sequence analysis of Peters anomaly
    • Weh E, Reis LM, Happ HC, et al. Whole exome sequence analysis of Peters anomaly. Hum Genet. 2014;133:1497-1511.
    • (2014) Hum Genet. , vol.133 , pp. 1497-1511
    • Weh, E.1    Reis, L.M.2    Happ, H.C.3
  • 7
    • 79960006207 scopus 로고    scopus 로고
    • Chromosome abnormalities and the genetics of congenital corneal opacification
    • Mataftsi A, Islam L, Kelberman D, et al. Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis. 2011;17:1624-1640.
    • (2011) Mol Vis. , vol.17 , pp. 1624-1640
    • Mataftsi, A.1    Islam, L.2    Kelberman, D.3
  • 8
    • 56149116122 scopus 로고    scopus 로고
    • Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3
    • Summers KM, Withers SJ, Gole GA, et al. Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. Mol Vis. 2008;14:2010-2015.
    • (2008) Mol Vis. , vol.14 , pp. 2010-2015
    • Summers, K.M.1    Withers, S.J.2    Gole, G.A.3
  • 9
    • 84925829555 scopus 로고    scopus 로고
    • IC3D classification of corneal dystrophies-edition 2
    • Weiss JS, Møller HU, Aldave AJ, et al. IC3D classification of corneal dystrophies-edition 2. Cornea. 2015;34:117-159.
    • (2015) Cornea , vol.34 , pp. 117-159
    • Weiss, J.S.1    Møller, H.U.2    Aldave, A.J.3
  • 10
    • 84894060050 scopus 로고    scopus 로고
    • Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome
    • Siddiqui S, Zenteno JC, Rice A, et al. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea. 2014;33:247-251.
    • (2014) Cornea , vol.33 , pp. 247-251
    • Siddiqui, S.1    Zenteno, J.C.2    Rice, A.3
  • 11
    • 84880176553 scopus 로고    scopus 로고
    • Genetics of the corneal endothelial dystrophies: An evidence-based review
    • Aldave AJ, Han J, Frausto RF. Genetics of the corneal endothelial dystrophies: an evidence-based review. Clin Genet. 2013;84:109-119.
    • (2013) Clin Genet. , vol.84 , pp. 109-119
    • Aldave, A.J.1    Han, J.2    Frausto, R.F.3
  • 12
    • 2642649523 scopus 로고    scopus 로고
    • A morphological and functional study of Congenital Hereditary Endothelial Dystrophy
    • Ehlers N, Modis L, Moller-Pedersen T. A morphological and functional study of Congenital Hereditary Endothelial Dystrophy. Acta Ophthalmol Scand. 1998;76:314-318.
    • (1998) Acta Ophthalmol Scand. , vol.76 , pp. 314-318
    • Ehlers, N.1    Modis, L.2    Moller-Pedersen, T.3
  • 13
    • 34447517518 scopus 로고    scopus 로고
    • Coexistent congenital hereditary endothelial dystrophy and congenital glaucoma
    • Ramamurthy B, Sachdeva V, Mandal AK, et al. Coexistent congenital hereditary endothelial dystrophy and congenital glaucoma. Cornea. 2007;26:647-649.
    • (2007) Cornea , vol.26 , pp. 647-649
    • Ramamurthy, B.1    Sachdeva, V.2    Mandal, A.K.3
  • 14
    • 76149131704 scopus 로고    scopus 로고
    • High measured intraocular pressure in children with recessive congenital hereditary endothelial dystrophy
    • Khan AO, Al-Shehah A, Ghadhfan FE. High measured intraocular pressure in children with recessive congenital hereditary endothelial dystrophy. J Pediatr Ophthalmol Strabismus. 2010;47:29-33.
    • (2010) J Pediatr Ophthalmol Strabismus , vol.47 , pp. 29-33
    • Khan, A.O.1    Al-Shehah, A.2    Ghadhfan, F.E.3
  • 15
    • 0037662649 scopus 로고    scopus 로고
    • Penetrating keratoplasty in young children with congenital hereditary endothelial dystrophy
    • Javadi MA, Baradaran-Rafii AR, Zamani M, et al. Penetrating keratoplasty in young children with congenital hereditary endothelial dystrophy. Cornea. 2003;22:420-423.
    • (2003) Cornea , vol.22 , pp. 420-423
    • Javadi, M.A.1    Baradaran-Rafii, A.R.2    Zamani, M.3
  • 16
    • 0033119388 scopus 로고    scopus 로고
    • Corneal transplantation in young children with congenital hereditary endothelial dystrophy. Multicenter pediatric keratoplasty study
    • Schaumberg DA, Moyes AL, Gomes JA, et al. Corneal transplantation in young children with congenital hereditary endothelial dystrophy. Multicenter pediatric keratoplasty study. Am J Ophthalmol. 1999;127:373-378.
    • (1999) Am J Ophthalmol. , vol.127 , pp. 373-378
    • Schaumberg, D.A.1    Moyes, A.L.2    Gomes, J.A.3
  • 17
    • 84884626872 scopus 로고    scopus 로고
    • Paediatric keratoplasty: Choices and conun-drums
    • Medsinge A, Nischal KK. Paediatric keratoplasty: choices and conun-drums. Br J Ophthalmol. 2013;97:1225-1227.
    • (2013) Br J Ophthalmol. , vol.97 , pp. 1225-1227
    • Medsinge, A.1    Nischal, K.K.2
  • 18
    • 33144458754 scopus 로고    scopus 로고
    • A new, X-linked endothelial corneal dystrophy
    • Schmid E, Lisch W, Philipp W, et al. A new, X-linked endothelial corneal dystrophy. Am J Ophthalmol. 2006;141:478-487.
    • (2006) Am J Ophthalmol. , vol.141 , pp. 478-487
    • Schmid, E.1    Lisch, W.2    Philipp, W.3
  • 19
    • 0023276437 scopus 로고
    • A corneal abnormality associated with trisomy 8 mosaicism syndrome
    • Stark DJ, Gilmore DW, Vance JC, et al. A corneal abnormality associated with trisomy 8 mosaicism syndrome. Br J Ophthalmol. 1987;71:29-31.
    • (1987) Br J Ophthalmol. , vol.71 , pp. 29-31
    • Stark, D.J.1    Gilmore, D.W.2    Vance, J.C.3
  • 20
    • 84901849016 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis: A case report and review of the literature
    • Chandravanshi SL. Encephalocraniocutaneous lipomatosis: a case report and review of the literature. Indian J Ophthalmol. 2014;62:622-627.
    • (2014) Indian J Ophthalmol. , vol.62 , pp. 622-627
    • Chandravanshi, S.L.1
  • 21
    • 84920942152 scopus 로고    scopus 로고
    • Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome
    • Herwig MC, Loeffler KU, Gembruch U, et al. Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome. Pediatr Dev Pathol. 2014;17:491-495.
    • (2014) Pediatr Dev Pathol. , vol.17 , pp. 491-495
    • Herwig, M.C.1    Loeffler, K.U.2    Gembruch, U.3
  • 23
    • 0038336520 scopus 로고    scopus 로고
    • Outcome of lamellar keratoplasty for limbal dermoids in children
    • Watts P, Michaeli-Cohen A, Abdolell M, et al. Outcome of lamellar keratoplasty for limbal dermoids in children. J AAPOS. 2002;6:209-215.
    • (2002) J AAPOS. , vol.6 , pp. 209-215
    • Watts, P.1    Michaeli-Cohen, A.2    Abdolell, M.3
  • 26
    • 34250202927 scopus 로고    scopus 로고
    • Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2
    • Aldave AJ, Sonmez B, Bourla N, et al. Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. Ophthalmic Genet. 2007;28:57-67.
    • (2007) Ophthalmic Genet. , vol.28 , pp. 57-67
    • Aldave, A.J.1    Sonmez, B.2    Bourla, N.3
  • 27
    • 34547578467 scopus 로고    scopus 로고
    • Study of p.N247S KERA mutation in a British family with cornea plana
    • Liskova P, Hysi PG, Williams D, et al. Study of p.N247S KERA mutation in a British family with cornea plana. Mol Vis. 2007;13:1339-1347.
    • (2007) Mol Vis. , vol.13 , pp. 1339-1347
    • Liskova, P.1    Hysi, P.G.2    Williams, D.3
  • 28
    • 80052497392 scopus 로고    scopus 로고
    • CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited
    • Kelberman D, Islam L, Jacques TS, et al. CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. Ophthalmology. 2011;118:1865-1873.
    • (2011) Ophthalmology , vol.118 , pp. 1865-1873
    • Kelberman, D.1    Islam, L.2    Jacques, T.S.3
  • 29
    • 34250697152 scopus 로고    scopus 로고
    • Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I
    • Zaidman GW, Flanagan JK, Furey CC. Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol. 2007;144:104-108.
    • (2007) Am J Ophthalmol. , vol.144 , pp. 104-108
    • Zaidman, G.W.1    Flanagan, J.K.2    Furey, C.C.3
  • 30
    • 0018418062 scopus 로고
    • Dysgenetic lens (dyl)-a new gene in the mouse
    • Sanyal S, Hawkins RK. Dysgenetic lens (dyl)-a new gene in the mouse. Invest Ophthalmol Vis Sci. 1979;18:642-645.
    • (1979) Invest Ophthalmol Vis Sci. , vol.18 , pp. 642-645
    • Sanyal, S.1    Hawkins, R.K.2
  • 31
    • 77955643791 scopus 로고    scopus 로고
    • Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
    • Ali M, Buentello-Volante B, McKibbin M, et al. Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis. 2010;16:1162-1168.
    • (2010) Mol Vis. , vol.16 , pp. 1162-1168
    • Ali, M.1    Buentello-Volante, B.2    McKibbin, M.3
  • 32
    • 0017074269 scopus 로고
    • Peters' anomaly with the fetal transfusion syndrome
    • Mondino BJ, Shahinian L Jr, Johnson BL, et al. Peters' anomaly with the fetal transfusion syndrome. Am J Ophthalmol. 1976;82:55-58.
    • (1976) Am J Ophthalmol. , vol.82 , pp. 55-58
    • Mondino, B.J.1    Shahinian, L.2    Johnson, B.L.3
  • 33
    • 76649122177 scopus 로고    scopus 로고
    • Vitreoretinal dysplasia masquerading as Peters' anomaly
    • Martinet V, Dureau P, Bergès O, et al. Vitreoretinal dysplasia masquerading as Peters' anomaly. Eur J Ophthalmol. 2010;20:228-230.
    • (2010) Eur J Ophthalmol. , vol.20 , pp. 228-230
    • Martinet, V.1    Dureau, P.2    Bergès, O.3
  • 34
    • 79952655582 scopus 로고    scopus 로고
    • A case of aniridia with unilateral Peters anomaly
    • Sawada M, Sato M, Hikoya A, et al. A case of aniridia with unilateral Peters anomaly. J AAPOS. 2011;15:104-106.
    • (2011) J AAPOS. , vol.15 , pp. 104-106
    • Sawada, M.1    Sato, M.2    Hikoya, A.3
  • 35
    • 84933043122 scopus 로고    scopus 로고
    • Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2)
    • Medsinge A, Nischal KK. Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2). J AAPOS. 2015;19:24-28.
    • (2015) J AAPOS. , vol.19 , pp. 24-28
    • Medsinge, A.1    Nischal, K.K.2
  • 36
    • 73349099376 scopus 로고    scopus 로고
    • Seeing clearly: The dominant and recessive nature of FOXE3 in eye developmental anomalies
    • Iseri SU, Osborne RJ, Farrall M, et al. Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat. 2009;30:1378-1386.
    • (2009) Hum Mutat , vol.30 , pp. 1378-1386
    • Iseri, S.U.1    Osborne, R.J.2    Farrall, M.3
  • 37
    • 0014750863 scopus 로고
    • Changes in corneal ultrastructure resulting from early lens removal in the developing chick embryo
    • Zinn KM. Changes in corneal ultrastructure resulting from early lens removal in the developing chick embryo. Invest Ophthalmol. 1970;9:165-182.
    • (1970) Invest Ophthalmol. , vol.9 , pp. 165-182
    • Zinn, K.M.1
  • 38
    • 11144244633 scopus 로고    scopus 로고
    • Corneal perforation secondary congenital aphakia in Peters anomaly
    • Banning CS, Blackmon DM, Song CD, et al. Corneal perforation secondary congenital aphakia in Peters anomaly. Cornea. 2005;24:118-120.
    • (2005) Cornea , vol.24 , pp. 118-120
    • Banning, C.S.1    Blackmon, D.M.2    Song, C.D.3
  • 39
    • 62649111045 scopus 로고    scopus 로고
    • A clinical and molecular genetic study of German patients with primary congenital glaucoma
    • Weisschuh N, Wolf C, Wissinger B, et al. A clinical and molecular genetic study of German patients with primary congenital glaucoma. Am J Ophthalmol. 2009;147:744-753.
    • (2009) Am J Ophthalmol. , vol.147 , pp. 744-753
    • Weisschuh, N.1    Wolf, C.2    Wissinger, B.3
  • 40
    • 65149084930 scopus 로고    scopus 로고
    • Null mutations in LTBP2 cause primary congenital glaucoma
    • Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet. 2009;84:664-671.
    • (2009) Am J Hum Genet. , vol.84 , pp. 664-671
    • Ali, M.1    McKibbin, M.2    Booth, A.3
  • 41
    • 70549088923 scopus 로고    scopus 로고
    • Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
    • Tümer Z, Bach-Holm D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet. 2009;17:1527-1539.
    • (2009) Eur J Hum Genet. , vol.17 , pp. 1527-1539
    • Tümer, Z.1    Bach-Holm, D.2
  • 43
    • 80052964674 scopus 로고    scopus 로고
    • Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and Axenfeld-Rieger disease severity
    • Kelberman D, Islam L, Holder SE, et al. Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat. 2011;32:1144-1152.
    • (2011) Hum Mutat , vol.32 , pp. 1144-1152
    • Kelberman, D.1    Islam, L.2    Holder, S.E.3
  • 44
    • 81855169549 scopus 로고    scopus 로고
    • Unilateral keratitis following death of a twin as the presenting sign of herpetic infection in a neonate
    • Wang E, Schnall BM, Rotschild T, et al. Unilateral keratitis following death of a twin as the presenting sign of herpetic infection in a neonate. J AAPOS. 2011;15:489-490.
    • (2011) J AAPOS. , vol.15 , pp. 489-490
    • Wang, E.1    Schnall, B.M.2    Rotschild, T.3
  • 45
    • 20444379983 scopus 로고    scopus 로고
    • Isolated herpes simplex keratoconjunctivitis in a neonate born by cesarean delivery
    • Gallardo MJ, Johnson DA, Gaviria J, et al. Isolated herpes simplex keratoconjunctivitis in a neonate born by cesarean delivery. J AAPOS. 2005;9:285-287.
    • (2005) J AAPOS. , vol.9 , pp. 285-287
    • Gallardo, M.J.1    Johnson, D.A.2    Gaviria, J.3
  • 46
    • 79960700281 scopus 로고    scopus 로고
    • Corneal autograft and allograft in a 10-month-old premature boy with acquired bilateral corneal opacities
    • Tannen B, Zarbin MA, Bhagat N, et al. Corneal autograft and allograft in a 10-month-old premature boy with acquired bilateral corneal opacities. Cornea. 2011;30:905-906.
    • (2011) Cornea , vol.30 , pp. 905-906
    • Tannen, B.1    Zarbin, M.A.2    Bhagat, N.3
  • 49
    • 78049248371 scopus 로고    scopus 로고
    • Indications and outcomes of deep anterior lamellar keratoplasty in children
    • Harding SA, Nischal KK, Upponi-Patil A, et al Indications and outcomes of deep anterior lamellar keratoplasty in children. Ophthalmology. 2010;117:2191-2195.
    • (2010) Ophthalmology , vol.117 , pp. 2191-2195
    • Harding, S.A.1    Nischal, K.K.2    Upponi-Patil, A.3
  • 50
    • 67149111620 scopus 로고    scopus 로고
    • Descemet stripping automated endothelial keratoplasty in a child with Descemet membrane breaks after forceps delivery
    • Ponchel C, Malecaze F, Arné JL, et al. Descemet stripping automated endothelial keratoplasty in a child with Descemet membrane breaks after forceps delivery. Cornea. 2009;28:338-341.
    • (2009) Cornea , vol.28 , pp. 338-341
    • Ponchel, C.1    Malecaze, F.2    Arné, J.L.3
  • 51
    • 0021988360 scopus 로고
    • Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation
    • Dangel ME, Bremer DL, Rogers GL. Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. Am J Ophthalmol. 1985;99:137-141.
    • (1985) Am J Ophthalmol. , vol.99 , pp. 137-141
    • Dangel, M.E.1    Bremer, D.L.2    Rogers, G.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.