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Volumn 111, Issue 7, 2004, Pages 1415-1423

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; APHAKIA; ARTICLE; ATAXIA; CHILD; CHROMOSOME 18Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL CATARACT; CONGENITAL STRABISMUS; CONTACT LENS; CONTROLLED STUDY; CORNEA DISEASE; DEMYELINATING NEUROPATHY; DISEASE COURSE; EYE REFRACTION; FACE DYSMORPHIA; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INFLAMMATION; LENS IMPLANT; LINKAGE ANALYSIS; MALE; MICROPHTHALMIA; MUSCLE ATROPHY; NEUROLOGIC EXAMINATION; NYSTAGMUS; OPHTHALMOLOGY; PEROPERATIVE COMPLICATION; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; PTOSIS; PUPIL DISEASE; TELOMERE; VISION; VISUAL ACUITY; YUGOSLAVIA;

EID: 3042563352     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2003.11.007     Document Type: Article
Times cited : (20)

References (42)
  • 1
    • 0033015804 scopus 로고    scopus 로고
    • Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: Clinical and electrophysiological observations
    • Tournev I., Kalaydjieva L., Youl B., et al. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies clinical and electrophysiological observations. Ann Neurol. 45:1999;742-750
    • (1999) Ann Neurol , vol.45 , pp. 742-750
    • Tournev, I.1    Kalaydjieva, L.2    Youl, B.3
  • 2
    • 0035722408 scopus 로고    scopus 로고
    • Congenital cataracts facial dysmorphism neuropathy syndrome-clinical, neuropathological and genetic investigation
    • Tournev I., Thomas P.K., Gooding R., et al. Congenital cataracts facial dysmorphism neuropathy syndrome-clinical, neuropathological and genetic investigation. Acta Myol. 20:2001;210-219
    • (2001) Acta Myol , vol.20 , pp. 210-219
    • Tournev, I.1    Thomas, P.K.2    Gooding, R.3
  • 3
    • 0032787807 scopus 로고    scopus 로고
    • Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: A novel developmental disorder in Gypsies maps to 18 qter
    • Angelicheva D., Tournev I., Kalaydjieva L., et al. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome a novel developmental disorder in Gypsies maps to 18 qter. Eur J Hum Genet. 7:1999;560-566
    • (1999) Eur J Hum Genet , vol.7 , pp. 560-566
    • Angelicheva, D.1    Tournev, I.2    Kalaydjieva, L.3
  • 4
    • 0032841954 scopus 로고    scopus 로고
    • Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome
    • Tournev I., King R.H., Kalaydjiěa L., et al. Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome. Acta Neuropathol (Berl). 98:1999;165-170
    • (1999) Acta Neuropathol (Berl) , vol.98 , pp. 165-170
    • Tournev, I.1    King, R.H.2    Kalaydjiěa, L.3
  • 5
    • 0141618451 scopus 로고    scopus 로고
    • Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
    • [letter]
    • Varon R., Gooding R., Steglich L., et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. [letter] Nat Genet. 35:2003;185-189
    • (2003) Nat Genet , vol.35 , pp. 185-189
    • Varon, R.1    Gooding, R.2    Steglich, L.3
  • 8
    • 0037328309 scopus 로고    scopus 로고
    • Morphological and functional results of AcrySof intraocular lens implantation in children: A prospective randomized study of age-related surgical management
    • Müllner-Eidenböck A., Amon M., Moser E., et al. Morphological and functional results of AcrySof intraocular lens implantation in children a prospective randomized study of age-related surgical management. J Cataract Refract Surg. 29:2003;285-293
    • (2003) J Cataract Refract Surg , vol.29 , pp. 285-293
    • Müllner-Eidenböck, A.1    Amon, M.2    Moser, E.3
  • 9
    • 0002441321 scopus 로고
    • Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrét dü dévelopment somato-neuro-psychique
    • Marinescu G., Draganescu S., Vasiliu D. Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrét dü dévelopment somato-neuro-psychique. Encephale. 26:1931;97-109
    • (1931) Encephale , vol.26 , pp. 97-109
    • Marinescu, G.1    Draganescu, S.2    Vasiliu, D.3
  • 10
    • 84941324351 scopus 로고
    • Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. A genetic and clinical investigation
    • Sjögren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. A genetic and clinical investigation. Confin Neurol. 10:1950;293-308
    • (1950) Confin Neurol , vol.10 , pp. 293-308
    • Sjögren, T.1
  • 11
    • 0037154185 scopus 로고    scopus 로고
    • Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes
    • Merlini L., Gooding R., Lochmüller H., et al. Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Neurology. 58:2002;231-236
    • (2002) Neurology , vol.58 , pp. 231-236
    • Merlini, L.1    Gooding, R.2    Lochmüller, H.3
  • 12
    • 18744410052 scopus 로고    scopus 로고
    • Linkage to 18qter differentiates two clinically overlapping syndromes: Congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
    • [letter]
    • Lagier-Tourenne C., Chaigne D., Dollfus H., et al. Linkage to 18qter differentiates two clinically overlapping syndromes congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome. [letter] J Med Genet. 39:2002;838-843
    • (2002) J Med Genet , vol.39 , pp. 838-843
    • Lagier-Tourenne, C.1    Chaigne, D.2    Dollfus, H.3
  • 13
    • 0023574064 scopus 로고
    • A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy
    • Herva R., von Wendt L., von Wendt G., et al. A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics. 18:1987;164-169
    • (1987) Neuropediatrics , vol.18 , pp. 164-169
    • Herva, R.1    Von Wendt, L.2    Von Wendt, G.3
  • 14
    • 0027436405 scopus 로고
    • Rapid cataract formation in Marinesco-Sjögren syndrome
    • Ishikawa T., Kitoh H., Awaya A., Nonaka I. Rapid cataract formation in Marinesco-Sjögren syndrome. Pediatr Neurol. 9:1993;407-408
    • (1993) Pediatr Neurol , vol.9 , pp. 407-408
    • Ishikawa, T.1    Kitoh, H.2    Awaya, A.3    Nonaka, I.4
  • 15
    • 84907114137 scopus 로고
    • Optic atrophy in Marinesco-Sjögren syndrome: An additional ocular feature. Report of three cases in two families
    • Dotti M.T., Bardelli A.M., De Stefano N., et al. Optic atrophy in Marinesco-Sjögren syndrome an additional ocular feature. Report of three cases in two families. Ophthalmic Paediatr Genet. 14:1993;5-7
    • (1993) Ophthalmic Paediatr Genet , vol.14 , pp. 5-7
    • Dotti, M.T.1    Bardelli, A.M.2    De Stefano, N.3
  • 16
    • 0031183471 scopus 로고    scopus 로고
    • Marinesco-Sjögren syndrome: Can the diagnosis be made prior to cataract formation?
    • [letter]
    • Shimizu T., Matsuishi T., Yamashita Y., Koga Y., et al. Marinesco-Sjögren syndrome can the diagnosis be made prior to cataract formation? [letter] Muscle Nerve. 20:1997;909-910
    • (1997) Muscle Nerve , vol.20 , pp. 909-910
    • Shimizu, T.1    Matsuishi, T.2    Yamashita, Y.3    Koga, Y.4
  • 17
    • 0029991068 scopus 로고    scopus 로고
    • Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome
    • Williams T.E., Buchhalter J.R., Sussman M.D. Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome. Pediatr Neurol. 14:1996;158-161
    • (1996) Pediatr Neurol , vol.14 , pp. 158-161
    • Williams, T.E.1    Buchhalter, J.R.2    Sussman, M.D.3
  • 18
    • 0020535035 scopus 로고
    • Sensorimotor neuropathy in a patient with Marinesco-Sjögren syndrome
    • Alexianu M., Christodorescu D., Vasilescu C., et al. Sensorimotor neuropathy in a patient with Marinesco-Sjögren syndrome. Eur Neurol. 22:1983;222-226
    • (1983) Eur Neurol , vol.22 , pp. 222-226
    • Alexianu, M.1    Christodorescu, D.2    Vasilescu, C.3
  • 19
    • 0027049047 scopus 로고
    • Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: Fine structural findings in skeletal muscle and conjunctiva
    • Zimmer C., Gosztonyi G., Cervos-Navarro J., et al. Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome fine structural findings in skeletal muscle and conjunctiva. Neuropediatrics. 23:1992;329-335
    • (1992) Neuropediatrics , vol.23 , pp. 329-335
    • Zimmer, C.1    Gosztonyi, G.2    Cervos-Navarro, J.3
  • 20
    • 0031909743 scopus 로고    scopus 로고
    • The Doyne Lecture. Congenital cataract: The history, the nature and the practice
    • Taylor D. The Doyne Lecture. Congenital cataract the history, the nature and the practice. Eye. 12:1998;9-36
    • (1998) Eye , vol.12 , pp. 9-36
    • Taylor, D.1
  • 22
    • 0005976174 scopus 로고    scopus 로고
    • Elimination of cataract blindness: A global perspective entering the new millennium
    • Apple D.J., Ram J., Foster A., Peng Q. Elimination of cataract blindness a global perspective entering the new millennium. Surv Ophthalmol. 45:(suppl 1):2000;S1-196
    • (2000) Surv Ophthalmol , vol.45 , Issue.SUPPL. 1 , pp. 1-196
    • Apple, D.J.1    Ram, J.2    Foster, A.3    Peng, Q.4
  • 23
    • 0025172937 scopus 로고
    • Cataract and metabolic disease
    • Endres W., Shin Y.S. Cataract and metabolic disease. J Inherit Metab Dis. 13:1990;509-516
    • (1990) J Inherit Metab Dis , vol.13 , pp. 509-516
    • Endres, W.1    Shin, Y.S.2
  • 25
    • 0034060264 scopus 로고    scopus 로고
    • Congenital cataracts: Gene mapping
    • He W., Li S. Congenital cataracts gene mapping. Hum Genet. 106:2000;1-13
    • (2000) Hum Genet , vol.106 , pp. 1-13
    • He, W.1    Li, S.2
  • 26
    • 0027293603 scopus 로고
    • Classification of microphthalmos and coloboma
    • Warburg M. Classification of microphthalmos and coloboma. J Med Genet. 30:1993;664-669
    • (1993) J Med Genet , vol.30 , pp. 664-669
    • Warburg, M.1
  • 27
    • 0026081099 scopus 로고
    • Visual results in congenital cataract with the use of contact lenses
    • Lorenz B., Wörle J. Visual results in congenital cataract with the use of contact lenses. Graefes Arch Clin Exp Ophthalmol. 229:1991;123-132
    • (1991) Graefes Arch Clin Exp Ophthalmol , vol.229 , pp. 123-132
    • Lorenz, B.1    Wörle, J.2
  • 29
    • 0034995138 scopus 로고    scopus 로고
    • The Wiedemann-Beckwith syndrome and a congenital cataract
    • [in French]
    • Momtchilova M., Pelosse B., Laroche L., Vazquez M.P. The Wiedemann-Beckwith syndrome and a congenital cataract. [in French] J Fr Ophtalmol. 24:2001;479-481
    • (2001) J Fr Ophtalmol , vol.24 , pp. 479-481
    • Momtchilova, M.1    Pelosse, B.2    Laroche, L.3    Vazquez, M.P.4
  • 30
    • 0034124101 scopus 로고    scopus 로고
    • Recessively inherited spastic paraplegia associated with ataxia, congenital cataracts, thin corpus callosum and axonal neuropathy
    • Yamashita I., Sasaki H., Yabe I., et al. Recessively inherited spastic paraplegia associated with ataxia, congenital cataracts, thin corpus callosum and axonal neuropathy. Acta Neurol Scand. 102:2000;65-69
    • (2000) Acta Neurol Scand , vol.102 , pp. 65-69
    • Yamashita, I.1    Sasaki, H.2    Yabe, I.3
  • 31
    • 0017831175 scopus 로고
    • Severe mental retardation, cataracts, short stature and primary hypogonadism in two brothers
    • Martsolf J.T., Hunter A.G., Haworth J.C. Severe mental retardation, cataracts, short stature and primary hypogonadism in two brothers. Am J Med Genet. 1:1978;291-299
    • (1978) Am J Med Genet , vol.1 , pp. 291-299
    • Martsolf, J.T.1    Hunter, A.G.2    Haworth, J.C.3
  • 32
    • 0035112634 scopus 로고    scopus 로고
    • Micro syndrome in Muslim Pakistan children
    • Ainsworth J.R., Morton J.E., Woods C.G., et al. Micro syndrome in Muslim Pakistan children. Ophthalmology. 108:2001;491-497
    • (2001) Ophthalmology , vol.108 , pp. 491-497
    • Ainsworth, J.R.1    Morton, J.E.2    Woods, C.G.3
  • 33
    • 0020057185 scopus 로고
    • Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome
    • Linna S.L., Finni K., Simila S., et al. Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. Pediatr Radiol. 12:1982;28-30
    • (1982) Pediatr Radiol , vol.12 , pp. 28-30
    • Linna, S.L.1    Finni, K.2    Simila, S.3
  • 35
    • 0033768182 scopus 로고    scopus 로고
    • Floppy eyelid syndrome and mental retardation
    • Boulton J.E., Sullivan T.J. Floppy eyelid syndrome and mental retardation. Ophthalmology. 107:2000;1989-1991
    • (2000) Ophthalmology , vol.107 , pp. 1989-1991
    • Boulton, J.E.1    Sullivan, T.J.2
  • 36
    • 0035186051 scopus 로고    scopus 로고
    • Floppy eyelid syndrome and mental retardation
    • [letter]
    • Mack W.P. Floppy eyelid syndrome and mental retardation. [letter] Ophthalmology. 108:2000;2159-2160
    • (2000) Ophthalmology , vol.108 , pp. 2159-2160
    • Mack, W.P.1
  • 37
    • 0028055083 scopus 로고
    • Histopathologic features of the floppy eyelid syndrome. Involvement of tarsal elastin
    • Netland P.A., Sugrue S.P., Albert D.M., Shore J.W. Histopathologic features of the floppy eyelid syndrome. Involvement of tarsal elastin. Ophthalmology. 101:1994;174-181
    • (1994) Ophthalmology , vol.101 , pp. 174-181
    • Netland, P.A.1    Sugrue, S.P.2    Albert, D.M.3    Shore, J.W.4
  • 38
    • 17544396212 scopus 로고    scopus 로고
    • Cellular reaction on the anterior surface of 4 types of intraocular lenses
    • Müllner-Eidenböck A., Amon M., Schaversberger J., et al. Cellular reaction on the anterior surface of 4 types of intraocular lenses. J Cataract Refract Surg. 27:2001;734-740
    • (2001) J Cataract Refract Surg , vol.27 , pp. 734-740
    • Müllner-Eidenböck, A.1    Amon, M.2    Schaversberger, J.3
  • 39
    • 0034190618 scopus 로고    scopus 로고
    • Abnormal supranuclear eye movements in the child: A practical guide to examination and interpretation
    • Cassidy L., Taylor D., Harris C. Abnormal supranuclear eye movements in the child a practical guide to examination and interpretation. Surv Ophthalmol. 44:2000;479-506
    • (2000) Surv Ophthalmol , vol.44 , pp. 479-506
    • Cassidy, L.1    Taylor, D.2    Harris, C.3
  • 41
    • 0031595485 scopus 로고    scopus 로고
    • Marinesco-Sjögren syndrome with rhabdomyolysis. A new subtype of the disease
    • Müller-Felber W., Zafiriou D., Scheck R., et al. Marinesco-Sjögren syndrome with rhabdomyolysis. A new subtype of the disease. Neuropediatrics. 29:1998;97-101
    • (1998) Neuropediatrics , vol.29 , pp. 97-101
    • Müller-Felber, W.1    Zafiriou, D.2    Scheck, R.3
  • 42
    • 0026347505 scopus 로고
    • Malignant hyperthermia and Marinesco-Sjögren syndrome
    • [letter]
    • Walther J.U., Zafiriou D., Jensen M. Malignant hyperthermia and Marinesco-Sjögren syndrome. [letter] Lancet. 338:1991;1603
    • (1991) Lancet , vol.338 , pp. 1603
    • Walther, J.U.1    Zafiriou, D.2    Jensen, M.3


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