메뉴 건너뛰기




Volumn 96, Issue 9, 2012, Pages 1227-1231

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ACTA2 GENE; ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHILD DEVELOPMENT; DANISH; EARLY DIAGNOSIS; ETHNIC GROUP; EYE REFRACTION; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HYPERMETROPIA; MALE; MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME; MYDRIASIS; MYOPIA; PATENT DUCTUS ARTERIOSUS; PERSISTENT PUPILLARY MEMBRANE; PRIORITY JOURNAL; PUPIL DISEASE; RETINA DISEASE; SCHOOL CHILD; SPECTACLES; TORTUOUS RETINAL ARTERIOLE; VISUAL ACUITY; VISUAL DEVELOPMENT; VISUAL SYSTEM EXAMINATION;

EID: 84866098858     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2011-301462     Document Type: Article
Times cited : (33)

References (18)
  • 1
    • 78349242484 scopus 로고    scopus 로고
    • De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
    • Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet 2010;152A:2437-43.
    • (2010) Am J Med Genet , vol.152 A , pp. 2437-2443
    • Milewicz, D.M.1    Østergaard, J.R.2    Ala-Kokko, L.M.3
  • 2
    • 0027223043 scopus 로고
    • Congenital aplasia of the iris sphincter and dilator muscles and patent ductus arteriosus
    • Buys Y, Buncic JR, Enzenauer RW, et al. Congenital aplasia of the iris sphincter and dilator muscles and patent ductus arteriosus. Can J Ophthalmol 1993;28:72-6.
    • (1993) Can J Ophthalmol , vol.28 , pp. 72-76
    • Buys, Y.1    Buncic, J.R.2    Enzenauer, R.W.3
  • 3
    • 84866107411 scopus 로고    scopus 로고
    • Chapter 14. Walsh FB, Hoyt WF, eds. 5th edn. Philadelphia, Lippincott: Williams & Wilkins
    • Miller NR, Newman NJ. Chapter 14. In: Walsh FB, Hoyt WF, eds. Neuro- Ophthalmology. The Essentials. 5th edn. Philadelphia, Lippincott: Williams & Wilkins, 1999:450-5.
    • (1999) Neuro- Ophthalmology. The Essentials , pp. 450-455
    • Miller, N.R.1    Newman, N.J.2
  • 4
    • 0036546933 scopus 로고    scopus 로고
    • Congenital mydriasis, failure of accommodation, and patent ductus arteriosus
    • Gräf MH, Jungherr A. Congenital mydriasis, failure of accommodation, and patent ductus arteriosus. Arch Ophthalmol 2002;120:509-10.
    • (2002) Arch Ophthalmol , vol.120 , pp. 509-510
    • Gräf, M.H.1    Jungherr, A.2
  • 5
    • 0029999417 scopus 로고    scopus 로고
    • Pre-term delivery and subsequent ocular development. A 7e10 year follow-up of children screened 1982-84 for ROP. I. Visual function, slit-lamp findings, and fundus appearance
    • Fledelius HC. Pre-term delivery and subsequent ocular development. A 7e10 year follow-up of children screened 1982-84 for ROP. I. Visual function, slit-lamp findings, and fundus appearance. Acta Ophthalmol Scand 1996;74 :288-93.
    • (1996) Acta Ophthalmol Scand , vol.74 , pp. 288-293
    • Fledelius, H.C.1
  • 6
    • 0020400069 scopus 로고
    • Tortuosities of retinal and conjunctival vessels in lysosomal storage disease
    • Libert J, Toussaint D. Tortuosities of retinal and conjunctival vessels in lysosomal storage disease. Birth Defects Orig Artic Ser 1982;18:347-58.
    • (1982) Birth Defects Orig Artic ser , vol.18 , pp. 347-358
    • Libert, J.1    Toussaint, D.2
  • 7
    • 33846805931 scopus 로고    scopus 로고
    • Ocular manifestations of Fabry's disease: Data from the Fabry Outcome Survey
    • Sodi A, Ioannidis AS, Mehta A, et al. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007;91:210-14.
    • (2007) Br J Ophthalmol , vol.91 , pp. 210-214
    • Sodi, A.1    Ioannidis, A.S.2    Mehta, A.3
  • 8
    • 0032722616 scopus 로고    scopus 로고
    • Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent
    • Adès LC, Davies R, Haan EA, et al. Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.Clin Dysmorphol 1999;8 :269-76.
    • (1999) Clin Dysmorphol , vol.8 , pp. 269-276
    • Adès, L.C.1    Davies, R.2    Haan, E.A.3
  • 9
    • 21644489149 scopus 로고    scopus 로고
    • Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?
    • Lemire BD, Buncic JR, Kennedy JS, et al. Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? Am J Med Genet A 2004;131A:318-19.
    • (2004) Am J Med Genet A , vol.131 A , pp. 318-319
    • Lemire, B.D.1    Buncic, J.R.2    Kennedy, J.S.3
  • 10
    • 23144432239 scopus 로고    scopus 로고
    • Congenital mydriasis combined with aneurysmal dilatation of a persistent ductus arteriosus Botalli: A rare syndrome
    • Lindberg K, Brunvand L. Congenital mydriasis combined with aneurysmal dilatation of a persistent ductus arteriosus Botalli: a rare syndrome. Acta Ophthalmol Scand 2005;83:508-9.
    • (2005) Acta Ophthalmol Scand , vol.83 , pp. 508-509
    • Lindberg, K.1    Brunvand, L.2
  • 13
    • 33745666100 scopus 로고    scopus 로고
    • Deletion of smooth muscle alfa-actin alters blood-retina barrier permeability and retinal function
    • Tomasek JJ, Haaksma CJ, Schwartz RJ, et al. Deletion of smooth muscle alfa-actin alters blood-retina barrier permeability and retinal function. Invest Ophthalmol Vis Sci 2006;47:2693-700.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 2693-2700
    • Tomasek, J.J.1    Haaksma, C.J.2    Schwartz, R.J.3
  • 14
    • 20444431195 scopus 로고    scopus 로고
    • Iris hypoplasia and aorticopulmonary septal defect: A neurocristopathy
    • Bergstrom CS, Saunders RA, Hutchinson AK, et al. Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy. J A APOS 2005;9:264e7.
    • (2005) J A APOS , vol.9
    • Bergstrom, C.S.1    Saunders, R.A.2    Hutchinson, A.K.3
  • 15
    • 0021878116 scopus 로고
    • An animal model of myopia
    • Raviola E, Wiesel TN. An animal model of myopia. N Engl J Med 1985;312:1609-15.
    • (1985) N Engl J Med , vol.312 , pp. 1609-1615
    • Raviola, E.1    Wiesel, T.N.2
  • 16
    • 0025382792 scopus 로고
    • Developing eyes that lack accommodation grow to compensate for imposed defocus
    • Schaeffel F, Troilo D, Wallman J, et al. Developing eyes that lack accommodation grow to compensate for imposed defocus. Vis Neurosci 1990;4:177-83.
    • (1990) Vis Neurosci , vol.4 , pp. 177-183
    • Schaeffel, F.1    Troilo, D.2    Wallman, J.3
  • 17
    • 0025779845 scopus 로고
    • The regulation of eye growth and refractive state: An experimental study of emmetropization
    • Troilo D, Wallman J. The regulation of eye growth and refractive state: an experimental study of emmetropization. Vision Res 1991;31:1237-50.
    • (1991) Vision Res , vol.31 , pp. 1237-1250
    • Troilo, D.1    Wallman, J.2
  • 18
    • 0032994969 scopus 로고    scopus 로고
    • The development and maintenance of emmetropia
    • Brown NP, Koretz JF, Bron AJ. The development and maintenance of emmetropia. Eye 1999;13:83-92.
    • (1999) Eye , vol.13 , pp. 83-92
    • Brown, N.P.1    Koretz, J.F.2    Bron, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.