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Volumn 26, Issue 2, 2009, Pages 61-67

Prenatal diagnosis of fetal cataract: Case report and review of the literature

Author keywords

Aneuploidy; Cataract; Congenital abnormalities; Eye; Fetal; Lens; Ultrasound

Indexed keywords

ADULT; CASE REPORT; CLINODACTYLY; CONGENITAL CATARACT; FEMALE; FETUS ECHOGRAPHY; GROWTH RETARDATION; HUMAN; HYPOGONADISM; MICROPHTHALMIA; MUSCLE HYPOTONIA; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SYSTEMATIC REVIEW; VAGINAL DELIVERY;

EID: 70350763845     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000238117     Document Type: Review
Times cited : (18)

References (69)
  • 2
    • 0035281572 scopus 로고    scopus 로고
    • A large-scale in situ screen provides molecular evidence for the induction of eye anterior segment structures by the developing lens
    • Thut CJ, Rountree RB, Hwa M, Kingsley DM: A large-scale in situ screen provides molecular evidence for the induction of eye anterior segment structures by the developing lens. Dev Biol 2001; 231: 63-76.
    • (2001) Dev Biol , vol.231 , pp. 63-76
    • Thut, C.J.1    Rountree, R.B.2    Hwa, M.3    Kingsley, D.M.4
  • 3
    • 0016807341 scopus 로고
    • Rubella cataract in vitro: Sensitive period of the developing human lens
    • Karkinen-Jääskeläinen M, Saxen L, Vaheri A, Leinikki P: Rubella cataract in vitro: sensitive period of the developing human lens. J Exp Med 1975; 141: 1238-1248.
    • (1975) J Exp Med , vol.141 , pp. 1238-1248
    • Karkinen-Jääskeläinen, M.1    Saxen, L.2    Vaheri, A.3    Leinikki, P.4
  • 4
    • 0034118380 scopus 로고    scopus 로고
    • Missense mutations in MIP underlie autosomal dominant polymorphic and lamellar cataract linked to 12q
    • Berry V, Francis P, Kaushal S, Moore A, Bhattacharya SS: Missense mutations in MIP underlie autosomal dominant polymorphic and lamellar cataract linked to 12q. Nature Genet 2000; 25: 15-17.
    • (2000) Nature Genet , vol.25 , pp. 15-17
    • Berry, V.1    Francis, P.2    Kaushal, S.3    Moore, A.4    Bhattacharya, S.S.5
  • 7
    • 0033949940 scopus 로고    scopus 로고
    • Congenital and infantile cataract in the united kingdom: Underlying or associated factors
    • Rahi JS, Dezateux C: Congenital and infantile cataract in the United Kingdom: underlying or associated factors. Invest Ophthalmol Vis Sci 2000; 41: 2108-2114.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 2108-2114
    • Rahi, J.S.1    Dezateux, C.2
  • 12
    • 0028950448 scopus 로고
    • The development of the fetal eye: In utero ultrasonographic measurements of the vitreous and lens
    • Achiron R, Gottlieb Z, Yaron Y, Gabbay M, Gabbay U, Lipitz S, Mashiach S: The development of the fetal eye: in utero ultrasonographic measurements of the vitreous and lens. Prenat Diagn 1995; 15: 155-160.
    • (1995) Prenat Diagn , vol.15 , pp. 155-160
    • Achiron, R.1    Gottlieb, Z.2    Yaron, Y.3    Gabbay, M.4    Gabbay, U.5    Lipitz, S.6    Mashiach, S.7
  • 13
    • 70350756155 scopus 로고    scopus 로고
    • A biometric study of the fetal orbit and lens in normal pregnancies
    • Sukonpan K, Phupong V: A biometric study of the fetal orbit and lens in normal pregnancies. J Clin Ultrasound 2008; 00: 000-000
    • (2008) J Clin Ultrasound , vol.0 , pp. 000-000
    • Sukonpan, K.1    Phupong, V.2
  • 15
    • 3042763121 scopus 로고    scopus 로고
    • Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome
    • Derbent M, Agras P, Gedik S, Oto S, Alehan F, Saatci U: Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. Am J Med Genet A 2004; 128: 232-234.
    • (2004) Am J Med Genet A , vol.128 , pp. 232-234
    • Derbent, M.1    Agras, P.2    Gedik, S.3    Oto, S.4    Alehan, F.5    Saatci, U.6
  • 17
    • 30344462352 scopus 로고    scopus 로고
    • Coats' disease and bilateral cataract in a child with Turner syndrome: A case report
    • Beby F, Roche O, Burillon C, Denis P: Coats' disease and bilateral cataract in a child with Turner syndrome: a case report. Graefes Arch Clin Exp Ophthalmol 2005; 243: 1291-1293.
    • (2005) Graefes Arch Clin Exp Ophthalmol , vol.243 , pp. 1291-1293
    • Beby, F.1    Roche, O.2    Burillon, C.3    Denis, P.4
  • 18
    • 0028981590 scopus 로고
    • Deletions of both- 5 (IV) and-6 (IV) collagen genes in alport syndrome and in alport syndrome associated with smooth muscle tumours
    • Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD, Leppig KA, Proesmans W, Guyot C, Guillot M, et al: Deletions of both- 5 (IV) and- 6 (IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum Mol Genet 1995; 4: 99-108.
    • (1995) Hum Mol Genet , vol.4 , pp. 99-108
    • Heidet, L.1    Dahan, K.2    Zhou, J.3    Xu, Z.4    Cochat, P.5    Gould, J.D.6    Leppig, K.A.7    Proesmans, W.8    Guyot, C.9    Guillot, M.10
  • 19
    • 3042523237 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency with bilateral cataract
    • Bakhshi S, Kabra M: Glucose-6-phosphate dehydrogenase deficiency with bilateral cataract. Indian Pediatr 2004; 41: 630-631.
    • (2004) Indian Pediatr , vol.41 , pp. 630-631
    • Bakhshi, S.1    Kabra, M.2
  • 20
    • 0019351118 scopus 로고
    • Increased incidence of cataract in male subjects deficient in glucose-6-phosphate dehydrogenase
    • Orzalesi N, Sorcinelh R, Guiso G: Increased incidence of cataract in male subjects deficient in glucose-6-phosphate dehydrogenase. Arch Ophthalmol 1981; 99: 69-70.
    • (1981) Arch Ophthalmol , vol.99 , pp. 69-70
    • Orzalesi, N.1    Sorcinelh, R.2    Guiso, G.3
  • 22
    • 0028070885 scopus 로고
    • Prenatal sonographic findings of apert syndrome
    • Chenoweth-Mitchell C, Cohen GR: Prenatal sonographic findings of Apert syndrome. J Clin Ultrasound 1994; 22: 510-514.
    • (1994) J Clin Ultrasound , vol.22 , pp. 510-514
    • Chenoweth-Mitchell, C.1    Cohen, G.R.2
  • 23
    • 0032965958 scopus 로고    scopus 로고
    • Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of Apert syndrome at mid-trimester
    • Boog G, Le Vaillant C, Winer N, David A, Quere MP, Nomballais MF: Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of Apert syndrome at mid-trimester. Fetal Diagn Ther 1999; 14: 20-23.
    • (1999) Fetal Diagn Ther , vol.14 , pp. 20-23
    • Boog, G.1    Le Vaillant, C.2    Winer, N.3    David, A.4    Quere, M.P.5    Nomballais, M.F.6
  • 28
    • 9644260533 scopus 로고    scopus 로고
    • Nonlethal Hallermann-Streiff syndrome with bone fracture: Report of a case
    • Ertekin V, Selimoglu MA, Selimoglu E: Nonlethal Hallermann-Streiff syndrome with bone fracture: report of a case. Ann Genet 2004; 47: 387-391.
    • (2004) Ann Genet , vol.47 , pp. 387-391
    • Ertekin, V.1    Selimoglu, M.A.2    Selimoglu, E.3
  • 29
    • 30944452791 scopus 로고    scopus 로고
    • Hallermann- Streiff syndrome associated with complete agenesis of the corpus callosum
    • Sigirci A, Alkan A, Bicak U, Yakinci C: Hallermann- Streiff syndrome associated with complete agenesis of the corpus callosum. J Child Neurol 2005; 20: 691-693.
    • (2005) J Child Neurol , vol.20 , pp. 691-693
    • Sigirci, A.1    Alkan, A.2    Bicak, U.3    Yakinci, C.4
  • 30
    • 33747772028 scopus 로고    scopus 로고
    • Rubinstein-Taybi syndrome
    • Hennekam R: Rubinstein-Taybi syndrome. Eur J Hum Genet 2006; 14: 981-985.
    • (2006) Eur J Hum Genet , vol.14 , pp. 981-985
    • Hennekam, R.1
  • 32
    • 17844410361 scopus 로고    scopus 로고
    • Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts
    • Basbug M, Serin IS, Özçelik B, Günes T, Akçakus M, Tayyar M: Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. Fetal Diagn Ther 2005; 20: 171-174.
    • (2005) Fetal Diagn Ther , vol.20 , pp. 171-174
    • Basbug, M.1    Serin, I.S.2    Özçelik, B.3    Günes, T.4    Akçakus, M.5    Tayyar, M.6
  • 34
    • 0027282572 scopus 로고
    • Walker-Warburg syndrome: Prenatal ultrasound findings
    • Vohra N, Ghidini A, Alvarez M, Lockwood C: Walker-Warburg syndrome: prenatal ultrasound findings. Prenat Diagn 1993; 13: 575-579.
    • (1993) Prenat Diagn , vol.13 , pp. 575-579
    • Vohra, N.1    Ghidini, A.2    Alvarez, M.3    Lockwood, C.4
  • 35
    • 0030884066 scopus 로고    scopus 로고
    • Second-trimester diagnosis of fetal cataract in a fetus with Walker-Warburg syndrome
    • Beinder EJ, Pfeiffer RA, Bornemann A, Wenkel H: Second-trimester diagnosis of fetal cataract in a fetus with Walker-Warburg syndrome. Fetal Diagn Ther 1997; 12: 197-199.
    • (1997) Fetal Diagn Ther , vol.12 , pp. 197-199
    • Beinder, E.J.1    Pfeiffer, R.A.2    Bornemann, A.3    Wenkel, H.4
  • 41
    • 33644531534 scopus 로고    scopus 로고
    • Clinicopathological study of bilateral developmental cataracts diagnosed in utero
    • Roberts F, Wisdom S, Howatson AG, Imrie S: Clinicopathological study of bilateral developmental cataracts diagnosed in utero. Graefes Arch Clin Exp Ophthalmol 2006; 244: 237-242.
    • (2006) Graefes Arch Clin Exp Ophthalmol , vol.244 , pp. 237-242
    • Roberts, F.1    Wisdom, S.2    Howatson, A.G.3    Imrie, S.4
  • 42
    • 0032857505 scopus 로고    scopus 로고
    • Prenatal ultrasound detection of congenital cataract in trisomy 21
    • Romain M, Awoust J, Dugauquier C, Van Maldergem L: Prenatal ultrasound detection of congenital cataract in trisomy 21. Prenat Diagn 1999; 19: 780-782.
    • (1999) Prenat Diagn , vol.19 , pp. 780-782
    • Romain, M.1    Awoust, J.2    Dugauquier, C.3    Van Maldergem, L.4
  • 43
    • 34547156990 scopus 로고    scopus 로고
    • Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family
    • Reches A, Yaron Y, Burdon K, Crystal-Shalit O, Kidron D, Malcov M, Tepper R: Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. Prenat Diagn 2007; 27: 662-664.
    • (2007) Prenat Diagn , vol.27 , pp. 662-664
    • Reches, A.1    Yaron, Y.2    Burdon, K.3    Crystal-Shalit, O.4    Kidron, D.5    Malcov, M.6    Tepper, R.7
  • 44
    • 0242438883 scopus 로고    scopus 로고
    • Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
    • Burdon KP, McKay JD, Sale MM, Russell- Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A: Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet 2003; 73: 1120-1130.
    • (2003) Am J Hum Genet , vol.73 , pp. 1120-1130
    • Burdon, K.P.1    McKay, J.D.2    Sale, M.M.3    Russell- Eggitt, I.M.4    MacKey, D.A.5    Wirth, M.G.6    Elder, J.E.7    Nicoll, A.8
  • 46
    • 0021265709 scopus 로고
    • The cerebrohepatorenal Zellweger syndrome: Increased levels and impaired degradation of verylong- chain fatty acids and their use in prenatal diagnosis
    • Moser AE, Singh I, Brown FR, Solish GI, Kelley RI, Benke PJ, Moser HW: The cerebrohepatorenal Zellweger syndrome: increased levels and impaired degradation of verylong- chain fatty acids and their use in prenatal diagnosis. New Engl J Med 1984; 310: 1141-1146.
    • (1984) New Engl J Med , vol.310 , pp. 1141-1146
    • Moser, A.E.1    Singh, I.2    Brown, F.R.3    Solish, G.I.4    Kelley, R.I.5    Benke, P.J.6    Moser, H.W.7
  • 49
    • 0033048607 scopus 로고    scopus 로고
    • Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis
    • Tsuru T, Yamagata T, Momoi MY, Okabe I: Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis. Prenat Diagn 1999; 19: 269-270.
    • (1999) Prenat Diagn , vol.19 , pp. 269-270
    • Tsuru, T.1    Yamagata, T.2    Momoi, M.Y.3    Okabe, I.4
  • 52
    • 8644288083 scopus 로고    scopus 로고
    • Parent du chatelet I, Ingrand D, Grangeot-Keros L: Assessment of the diagnostic value of RT-PCR on amniotic fluid for prenatal diagnosis of congenital rubella infection
    • Mace M, Cointe D, Six C, Levy-Bruhl D, Parent du Chatelet I, Ingrand D, Grangeot-Keros L: Assessment of the diagnostic value of RT-PCR on amniotic fluid for prenatal diagnosis of congenital rubella infection. Pathol Biol 2004; 52: 540-543.
    • (2004) Pathol Biol , vol.52 , pp. 540-543
    • MacE, M.1    Cointe, D.2    Six, C.3    Levy-Bruhl, D.4
  • 53
    • 0032751453 scopus 로고    scopus 로고
    • Prenatal diagnosis of fetal cytomegalovirus infection after primary or recurrent maternal infection
    • Nigro G, Mazzocco M, Anceschi M, La Torre R, Antonelli G, Cosmi E: Prenatal diagnosis of fetal cytomegalovirus infection after primary or recurrent maternal infection. Obstet Gynecol 1999; 94: 909-914.
    • (1999) Obstet Gynecol , vol.94 , pp. 909-914
    • Nigro, G.1    Mazzocco, M.2    Anceschi, M.3    La Torre, R.4    Antonelli, G.5    Cosmi, E.6
  • 57
    • 33646470693 scopus 로고    scopus 로고
    • Coumarin embryopathy in an extremely low birth weight infant associated with neonatal hepatitis and ocular malformations
    • Hetzel PG, Glanzmann R, Hasler PW, Ladewick A, Bührer C: Coumarin embryopathy in an extremely low birth weight infant associated with neonatal hepatitis and ocular malformations. Eur J Pediatr 2006; 165: 358-360.
    • (2006) Eur J Pediatr , vol.165 , pp. 358-360
    • Hetzel, P.G.1    Glanzmann, R.2    Hasler, P.W.3    Ladewick, A.4    Bührer, C.5
  • 58
    • 39449127635 scopus 로고    scopus 로고
    • Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic
    • Goyal R, Thompson D, Timms C, Wilson LC, Russell-Eggitt I: Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic. Eye 2008; 22: 273-281.
    • (2008) Eye , vol.22 , pp. 273-281
    • Goyal, R.1    Thompson, D.2    Timms, C.3    Wilson, L.C.4    Russell-Eggitt, I.5
  • 63
    • 0031057705 scopus 로고    scopus 로고
    • Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena- Shokeir II) syndrome
    • Sakai T, Kikuchi F, Takashima S, Matsuda H, Watanabe N: Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena- Shokeir II) syndrome. Brain Dev 1997; 19: 58-62.
    • (1997) Brain Dev , vol.19 , pp. 58-62
    • Sakai, T.1    Kikuchi, F.2    Takashima, S.3    Matsuda, H.4    Watanabe, N.5
  • 64
    • 0025886372 scopus 로고
    • De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts
    • Weaver RG, Rao N, Thomas IT, Pettenati MJ: De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts. Am J Med Genet 1991; 40: 509-512.
    • (1991) Am J Med Genet , Issue.40 , pp. 509-512
    • Weaver, R.G.1    Rao, N.2    Thomas, I.T.3    Pettenati, M.J.4
  • 68
    • 0013813356 scopus 로고
    • Comparison of the effects of unilateral and bilateral eye closure on cortical unit responses in kittens
    • Wiesel TN, Hubel DH: Comparison of the effects of unilateral and bilateral eye closure on cortical unit responses in kittens. J Neurophysiol 1965; 28: 1029-1040.
    • (1965) J Neurophysiol , vol.28 , pp. 1029-1040
    • Wiesel, T.N.1    Hubel, D.H.2
  • 69


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.