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Volumn 29, Issue 5, 2009, Pages 657-668

Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EPIRETINAL MEMBRANE; EYE EXAMINATION; FEMALE; FLUORESCENCE ANGIOGRAPHY; HETEROZYGOTE DETECTION; HUMAN; MALE; NEURONAL CEROID LIPOFUSCINOSIS; OPHTHALMOSCOPY; OUTCOME ASSESSMENT; PIGMENT EPITHELIUM; SCHOOL CHILD; AGED; ATROPHY; DIFFERENTIAL DIAGNOSIS; GENETICS; HETEROZYGOTE; MIDDLE AGED; PATHOLOGY; PHOTOGRAPHY; PRESCHOOL CHILD; RETINA DISEASE;

EID: 66349091977     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/IAE.0b013e31819b0542     Document Type: Article
Times cited : (25)

References (24)
  • 1
    • 0024196294 scopus 로고
    • Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities
    • Wisniewski KE, Rapin I, Heaney-Kieras J. Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. Am J Med Genet Supplement 1988;5:27-46.
    • (1988) Am J Med Genet Supplement , vol.5 , pp. 27-46
    • Wisniewski, K.E.1    Rapin, I.2    Heaney-Kieras, J.3
  • 4
    • 0002420213 scopus 로고
    • The natural history of Jansky-Bielschowsky's and Batten's disease
    • Armstrong D, Koppang N, Rider J, eds, Amsterdam: Elsevier Biomedical Press;
    • Warburg M. The natural history of Jansky-Bielschowsky's and Batten's disease. In: Armstrong D, Koppang N, Rider J, eds. Ceroid-lipofuscinosis (Batten's Disease). Amsterdam: Elsevier Biomedical Press; 1982:35-44.
    • (1982) Ceroid-lipofuscinosis (Batten's Disease) , pp. 35-44
    • Warburg, M.1
  • 5
    • 0026555446 scopus 로고
    • Batten disease; deteriorating course of ocular findings
    • Horiguchi M, Miyake Y. Batten disease; deteriorating course of ocular findings. Jpn J Ophthalmol 1992;36:91-96.
    • (1992) Jpn J Ophthalmol , vol.36 , pp. 91-96
    • Horiguchi, M.1    Miyake, Y.2
  • 6
    • 0020359113 scopus 로고
    • Neuronal ceroid lipofuscinosis in the amaurotic retardate: Electron microscopic confirmation
    • Henry J, Stevens S. Neuronal ceroid lipofuscinosis in the amaurotic retardate: electron microscopic confirmation. Aust J Ophthalmol 1982;10:161-166.
    • (1982) Aust J Ophthalmol , vol.10 , pp. 161-166
    • Henry, J.1    Stevens, S.2
  • 7
    • 0031869908 scopus 로고    scopus 로고
    • The dystrophic retina in multisystem disorders: The electroretinogram in neuronal ceroid lipofuscinoses
    • Weleber R. The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye 1998; 12:580-590.
    • (1998) Eye , vol.12 , pp. 580-590
    • Weleber, R.1
  • 8
    • 0015766596 scopus 로고
    • Ophthalmological findings in infantile type of so-called neuronal ceroid lipofuscinosis
    • Raitta C, Santavuori P. Ophthalmological findings in infantile type of so-called neuronal ceroid lipofuscinosis. Acta Ophthal-mol 1973;51:755-763.
    • (1973) Acta Ophthal-mol , vol.51 , pp. 755-763
    • Raitta, C.1    Santavuori, P.2
  • 9
    • 0033880494 scopus 로고    scopus 로고
    • Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene
    • Eksandh L, Ponjavic V, Munroe P, et al. Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. Ophthalmic Genet 2000;21:69-77.
    • (2000) Ophthalmic Genet , vol.21 , pp. 69-77
    • Eksandh, L.1    Ponjavic, V.2    Munroe, P.3
  • 10
    • 0022449933 scopus 로고
    • Ocular features of the Hagberg-Santavuori syndrome
    • Bateman J, Philippart M. Ocular features of the Hagberg-Santavuori syndrome. Am J Ophthalmol 1986;102:262-271.
    • (1986) Am J Ophthalmol , vol.102 , pp. 262-271
    • Bateman, J.1    Philippart, M.2
  • 11
    • 4744361095 scopus 로고    scopus 로고
    • Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)
    • Weleber R, Gupta N, Trzupek K, Wepner M, Kurz D, Milam A. Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). Mol Genet Metab 2004;83:128-137.
    • (2004) Mol Genet Metab , vol.83 , pp. 128-137
    • Weleber, R.1    Gupta, N.2    Trzupek, K.3    Wepner, M.4    Kurz, D.5    Milam, A.6
  • 13
    • 0021676536 scopus 로고
    • Neuronal ceroid lipofuscinosis; a retinal trypsin digest study
    • De Venecia G, Shapiro M. Neuronal ceroid lipofuscinosis; a retinal trypsin digest study. Ophthalmology 1984;91:1406-1410.
    • (1984) Ophthalmology , vol.91 , pp. 1406-1410
    • De Venecia, G.1    Shapiro, M.2
  • 14
    • 0038057721 scopus 로고    scopus 로고
    • A case of late infantile neuronal ceroid lipofuscinosis
    • Lee C, Bang H, Oh Y, Yun H, Kim J, Coe C. A case of late infantile neuronal ceroid lipofuscinosis. Yonsei Med J 2003; 44:331-335.
    • (2003) Yonsei Med J , vol.44 , pp. 331-335
    • Lee, C.1    Bang, H.2    Oh, Y.3    Yun, H.4    Kim, J.5    Coe, C.6
  • 15
    • 0019123123 scopus 로고
    • Juvenile Batten's disease: An ophthalmological assessment of 26 patients
    • Spalton D, Taylor D, Sanders M. Juvenile Batten's disease: an ophthalmological assessment of 26 patients. Br J Ophthalmol 1980;64:726-732.
    • (1980) Br J Ophthalmol , vol.64 , pp. 726-732
    • Spalton, D.1    Taylor, D.2    Sanders, M.3
  • 16
    • 38149030754 scopus 로고    scopus 로고
    • Phenotypic Characterization of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
    • Katz ML, Johnson GS, Tullis GE, Lei B. Phenotypic Characterization of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. Neurobiol Dis 2008;29:242-253.
    • (2008) Neurobiol Dis , vol.29 , pp. 242-253
    • Katz, M.L.1    Johnson, G.S.2    Tullis, G.E.3    Lei, B.4
  • 17
    • 66749095262 scopus 로고    scopus 로고
    • A phase 1 clinical study of human CNS stem cells (HuCNS-SC) in patients with neuronal ceroid lipofuscinosis
    • Pearce D, Jalanki A, eds, Rochester, NY;
    • Steiner R, Koch T, Al-Uzri A, et al. A phase 1 clinical study of human CNS stem cells (HuCNS-SC) in patients with neuronal ceroid lipofuscinosis. In: Pearce D, Jalanki A, eds. 11th International Congress on Neuronal Ceroid Lipofuscinosis. Rochester, NY; 2007:O3.
    • (2007) 11th International Congress on Neuronal Ceroid Lipofuscinosis
    • Steiner, R.1    Koch, T.2    Al-Uzri, A.3
  • 18
    • 67749138318 scopus 로고    scopus 로고
    • Adeno-associated viral-mediated gene therapy for the CNS manifestations of Batten disease
    • Pearce D, Jalanko A, eds, Rochester, NY;
    • Crystal RG. Adeno-associated viral-mediated gene therapy for the CNS manifestations of Batten disease. In: Pearce D, Jalanko A, eds. 11th International Congress on Neuronal Ceroid Lipofuscinosis (Batten Disease). Rochester, NY; 2007:O4.
    • (2007) 11th International Congress on Neuronal Ceroid Lipofuscinosis (Batten Disease)
    • Crystal, R.G.1
  • 19
    • 0029076648 scopus 로고
    • Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): A word to pediatricians, neurologists, and ophthalmologists
    • Heim P, Kohlschutter A. Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): a word to pediatricians, neurologists, and ophthalmologists. Am J Med Genet 1995;57:238.
    • (1995) Am J Med Genet , vol.57 , pp. 238
    • Heim, P.1    Kohlschutter, A.2
  • 20
    • 1042265181 scopus 로고    scopus 로고
    • Current state of clinical and morphological features in human NCL
    • Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol 2004;14: 61-69.
    • (2004) Brain Pathol , vol.14 , pp. 61-69
    • Goebel, H.H.1    Wisniewski, K.E.2
  • 21
    • 33745079623 scopus 로고    scopus 로고
    • Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
    • Siintola E, Partanen S, Stromme P, et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 2006;129:1438-1445.
    • (2006) Brain , vol.129 , pp. 1438-1445
    • Siintola, E.1    Partanen, S.2    Stromme, P.3
  • 22
    • 34347253609 scopus 로고    scopus 로고
    • The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
    • Siintola E, Topcu M, Aula N, et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 2007;81:136-146.
    • (2007) Am J Hum Genet , vol.81 , pp. 136-146
    • Siintola, E.1    Topcu, M.2    Aula, N.3
  • 23
    • 33646871344 scopus 로고    scopus 로고
    • Cathepsin D deficiency is associated with a human neurodegenerative disorder
    • Steinfeld R, Reinhardt K, Schreiber K, et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 2006;78:988-998.
    • (2006) Am J Hum Genet , vol.78 , pp. 988-998
    • Steinfeld, R.1    Reinhardt, K.2    Schreiber, K.3
  • 24
    • 0033762747 scopus 로고    scopus 로고
    • Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease
    • Bensaoula T, Shibuya H, Katz M, et al. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. Ophthalmology 2000;107:1746-1753.
    • (2000) Ophthalmology , vol.107 , pp. 1746-1753
    • Bensaoula, T.1    Shibuya, H.2    Katz, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.