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Volumn 11, Issue 3, 2003, Pages 173-177

The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES)

Author keywords

Amblyopia; Blepharophimosis; BPES syndrome; Congenital malformations; Heredity; Ptosis; Refractive error; Strabismus

Indexed keywords

AMBLYOPIA; ANISOMETROPIA; AUTOSOMAL DOMINANT INHERITANCE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS AND EPICANTHUS INVERSUS SYNDROME; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONVERGENT STRABISMUS; DIVERGENT STRABISMUS; EYELID DISEASE; FEMALE; HEREDITY; HUMAN; HYPERMETROPIA; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MYOPIA; NYSTAGMUS; PRIORITY JOURNAL; PTOSIS; REFRACTION ERROR; RETROSPECTIVE STUDY; REVIEW; SCHOOL CHILD; STRABISMUS; SYNDROME; VERTICAL STRABISMUS;

EID: 0142153885     PISSN: 09273972     EISSN: None     Source Type: Journal    
DOI: 10.1076/stra.11.3.173.16645     Document Type: Review
Times cited : (33)

References (20)
  • 2
    • 0012139976 scopus 로고
    • Congenital anomalies of the eyelids and socket
    • Hornblass A (editor). Baltimore: Williams & Wilkins
    • Kohn R. Congenital anomalies of the eyelids and socket. In: Hornblass A (editor). Oculoplastic, Orbital and Reconstructive Surgery. Baltimore: Williams & Wilkins, 1988;107-109.
    • (1988) Oculoplastic, Orbital and Reconstructive Surgery , pp. 107-109
    • Kohn, R.1
  • 3
    • 0020508397 scopus 로고
    • The Blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
    • Zlotogora J, Sagi M, Cohen T. The Blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet. 1983;35:1020-1027.
    • (1983) Am J Hum Genet , vol.35 , pp. 1020-1027
    • Zlotogora, J.1    Sagi, M.2    Cohen, T.3
  • 4
    • 0035878536 scopus 로고    scopus 로고
    • Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
    • De Baere E, Dixon MJ, Small KW, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Molec Genet. 2001;10(5): 1591-1600.
    • (2001) Hum Molec Genet , vol.10 , Issue.5 , pp. 1591-1600
    • De Baere, E.1    Dixon, M.J.2    Small, K.W.3
  • 5
    • 0034665201 scopus 로고    scopus 로고
    • Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES
    • De Baere E, Fukushima Y, Small K, et al. Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. Genomics. 2000;68:296-304.
    • (2000) Genomics , vol.68 , pp. 296-304
    • De Baere, E.1    Fukushima, Y.2    Small, K.3
  • 6
    • 0034945023 scopus 로고    scopus 로고
    • Identification of a new TWISTmutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q23
    • Dollfus H, Kumaramanickavel G, Biswas P, et al. Identification of a new TWISTmutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q23. J Med Genet. 2001; 58:470-471.
    • (2001) J Med Genet , vol.58 , pp. 470-471
    • Dollfus, H.1    Kumaramanickavel, G.2    Biswas, P.3
  • 7
    • 0035726994 scopus 로고    scopus 로고
    • Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2
    • Bell R, Murday VA, Patton MA, Jeffery S. Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2. Genet Test. 2001;5(4):335-338.
    • (2001) Genet Test , vol.5 , Issue.4 , pp. 335-338
    • Bell, R.1    Murday, V.A.2    Patton, M.A.3    Jeffery, S.4
  • 8
    • 0036210317 scopus 로고    scopus 로고
    • A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid
    • Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genet. 2002;23(1):43-47.
    • (2002) Ophthalmic Genet , vol.23 , Issue.1 , pp. 43-47
    • Kosaki, K.1    Ogata, T.2    Kosaki, R.3    Sato, S.4    Matsuo, N.5
  • 9
    • 0037318857 scopus 로고    scopus 로고
    • FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    • De Baere E, Beysen D, Oley C, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003; 72:478-487.
    • (2003) Am J Hum Genet , vol.72 , pp. 478-487
    • De Baere, E.1    Beysen, D.2    Oley, C.3
  • 10
    • 0028298101 scopus 로고
    • Refraction in childhood as a risk factor for the development of amblyopia and/or strabismus. Recording a round table discussion at the 89th Congress of the German Society of Ophthalmology 25 September 1991 in Leipzig
    • Haase W. Refraction in childhood as a risk factor for the development of amblyopia and/or strabismus. Recording a round table discussion at the 89th Congress of the German Society of Ophthalmology 25 September 1991 in Leipzig. Klin Monatsbl Augenheilkd. 1994;204(1): 48-54.
    • (1994) Klin Monatsbl Augenheilkd , vol.204 , Issue.1 , pp. 48-54
    • Haase, W.1
  • 11
    • 0036317938 scopus 로고    scopus 로고
    • Congenital ptosis: Amblyogenic refractive errors, amblyopia, manifest strabismus and stereopsis related to the types of ptosis. Data on 77 patients and review of literature
    • Gusek-Schneider G-C. Congenital ptosis: amblyogenic refractive errors, amblyopia, manifest strabismus and stereopsis related to the types of ptosis. Data on 77 patients and review of literature. Klin Monatsbl Augenheilkd. 2002;219:340-348.
    • (2002) Klin Monatsbl Augenheilkd , vol.219 , pp. 340-348
    • Gusek-Schneider, G.-C.1
  • 13
    • 0036628695 scopus 로고    scopus 로고
    • Congenital ptosis and amblyopia: A retrospective study of 130 cases
    • Dray JP, Leibovitch I. Congenital ptosis and amblyopia: a retrospective study of 130 cases. J Pediatr Ophthalmol Strabismus. 2002;39(4):222-225.
    • (2002) J Pediatr Ophthalmol Strabismus , vol.39 , Issue.4 , pp. 222-225
    • Dray, J.P.1    Leibovitch, I.2
  • 14
    • 0035213729 scopus 로고    scopus 로고
    • Visual acuity, residual amblyopia and ocular pathology in a screened population of 12-13 year-old children in Sweden
    • Ohlsson J, Villarrea G, Sjöström A, Abrahamsson M, Sjöstrand J. Visual acuity, residual amblyopia and ocular pathology in a screened population of 12-13 year-old children in Sweden. Acta Ophthalmol Scand. 2001;79: 589-595.
    • (2001) Acta Ophthalmol Scand , vol.79 , pp. 589-595
    • Ohlsson, J.1    Villarrea, G.2    Sjöström, A.3    Abrahamsson, M.4    Sjöstrand, J.5
  • 15
    • 0029681123 scopus 로고    scopus 로고
    • Can we identify risk groups for the development of amblyopia and strabismus?
    • Sjostrand J, Abrahamsson M. Can we identify risk groups for the development of amblyopia and strabismus? Klin Monatsbl Augenheilkd. 1996;208(1):23-26.
    • (1996) Klin Monatsbl Augenheilkd , vol.208 , Issue.1 , pp. 23-26
    • Sjostrand, J.1    Abrahamsson, M.2
  • 17
    • 0034351665 scopus 로고    scopus 로고
    • Prevalence of amblyopia and associated refractive errors in an adult population in Victoria, Australia
    • Brown SA, Weih LM, Fu CL, et al. Prevalence of amblyopia and associated refractive errors in an adult population in Victoria, Australia. Ophthalmic Epidemiol. 2000;7(4):249-258.
    • (2000) Ophthalmic Epidemiol , vol.7 , Issue.4 , pp. 249-258
    • Brown, S.A.1    Weih, L.M.2    Fu, C.L.3
  • 18
    • 0029950725 scopus 로고    scopus 로고
    • Two infant vision screening programmes: Prediction and prevention of strabismus and amblyopia from photo- and videorefractive screening
    • Atkinson J, Braddick O, Robier B, et al. Two infant vision screening programmes: prediction and prevention of strabismus and amblyopia from photo-and videorefractive screening. Eye. 1996;10(Pt 2):189-198.
    • (1996) Eye , vol.10 , Issue.2 PART , pp. 189-198
    • Atkinson, J.1    Braddick, O.2    Robier, B.3
  • 19
    • 0025335627 scopus 로고
    • A longitudinal study of a population based sample of astigmatic children. I. Refraction and amblyopia
    • Abrahamsson M, Fabian G, Andersson AK, Sjostrand J. A longitudinal study of a population based sample of astigmatic children. I. Refraction and amblyopia. Acta Ohthalmol (Copenh). 1990;68(4): 428-434.
    • (1990) Acta Ohthalmol (Copenh) , vol.68 , Issue.4 , pp. 428-434
    • Abrahamsson, M.1    Fabian, G.2    Andersson, A.K.3    Sjostrand, J.4
  • 20
    • 0023851843 scopus 로고
    • Changes in astigmatism between the ages of 1 and 4 years: A longitudinal study
    • Abrahamsson M, Fabian G, Sjostrand J. Changes in astigmatism between the ages of 1 and 4 years: a longitudinal study. Br J Ophthalmol. 1988;72(2):145-149.
    • (1988) Br J Ophthalmol , vol.72 , Issue.2 , pp. 145-149
    • Abrahamsson, M.1    Fabian, G.2    Sjostrand, J.3


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