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Volumn 88, Issue 4, 2005, Pages 521-526

Ocular manifestations in adolescent cystinosis: Case report in Thailand

Author keywords

Corneal deposit; Cystinosis; Fanconi syndrome

Indexed keywords

CYSTINE;

EID: 23044455691     PISSN: 01252208     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (51)
  • 1
    • 0031945551 scopus 로고    scopus 로고
    • A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
    • Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998; 18: 319-24.
    • (1998) Nat Genet , vol.18 , pp. 319-324
    • Town, M.1    Jean, G.2    Cherqui, S.3    Attard, M.4    Forestier, L.5    Whitmore, S.A.6
  • 2
    • 0029319869 scopus 로고
    • Linkage of the gene for cystinosis to markers on the short arm of chromosome 17
    • The Cystinosis Collaborative Research Group. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 1995; 10: 246-8.
    • (1995) Nat Genet , vol.10 , pp. 246-248
  • 5
    • 0032785837 scopus 로고    scopus 로고
    • CTNS mutations in patients with cystinosis
    • Anikster Y, Shotelersuk V, Gahl WA. CTNS mutations in patients with cystinosis. Hum Mutat 1999; 14: 454-8.
    • (1999) Hum Mutat , vol.14 , pp. 454-458
    • Anikster, Y.1    Shotelersuk, V.2    Gahl, W.A.3
  • 6
    • 0033808653 scopus 로고    scopus 로고
    • Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops
    • Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab 2000; 71: 100-20.
    • (2000) Mol Genet Metab , vol.71 , pp. 100-120
    • Gahl, W.A.1    Kuehl, E.M.2    Iwata, F.3    Lindblad, A.4    Kaiser-Kupfer, M.I.5
  • 7
    • 0344034275 scopus 로고    scopus 로고
    • Cystinosis. A clinicopathological conference. "From toddlers to twenties and beyond" Adult-Paediatric Nephrology Interface Meeting, Manchester 2001
    • Middleton R, Bradbury M, Webb N, O'Donoghue D, Van't Hoff W. Cystinosis. A clinicopathological conference. "From toddlers to twenties and beyond" Adult-Paediatric Nephrology Interface Meeting, Manchester 2001. Nephrol Dial Transplant 2003; 18: 2492-5.
    • (2003) Nephrol Dial Transplant , vol.18 , pp. 2492-2495
    • Middleton, R.1    Bradbury, M.2    Webb, N.3    O'Donoghue, D.4    Van't Hoff, W.5
  • 9
    • 0026236632 scopus 로고
    • The importance of the bone marrow examination in cystinosis
    • Varan A, Tuncer AM. The importance of the bone marrow examination in cystinosis. Pediatr Hematol Oncol 1991; 8: 373-4.
    • (1991) Pediatr Hematol Oncol , vol.8 , pp. 373-374
    • Varan, A.1    Tuncer, A.M.2
  • 14
    • 0027478064 scopus 로고
    • Improved renal function in children with cystinosis treated with cysteamine
    • Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 1993; 328: 1157-62.
    • (1993) N Engl J Med , vol.328 , pp. 1157-1162
    • Markello, T.C.1    Bernardini, I.M.2    Gahl, W.A.3
  • 15
    • 0025971399 scopus 로고
    • Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population
    • Richler M, Milot J, Quigley M, O'Regan S. Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population. Arch Ophthalmol 1991; 109: 359-62.
    • (1991) Arch Ophthalmol , vol.109 , pp. 359-362
    • Richler, M.1    Milot, J.2    Quigley, M.3    O'Regan, S.4
  • 17
    • 0023584091 scopus 로고
    • Complications of nephropathic cystinosis after renal failure
    • Gahl WA, Kaiser-Kupfer MI. Complications of nephropathic cystinosis after renal failure. Pediatr Nephrol 1987; 1: 260-8.
    • (1987) Pediatr Nephrol , vol.1 , pp. 260-268
    • Gahl, W.A.1    Kaiser-Kupfer, M.I.2
  • 21
    • 0038246329 scopus 로고    scopus 로고
    • Evolution of ocular manifestations in nephropathic cystinosis: A long-term study of a population treated with cysteamine
    • Dureau P, Broyer M, Dufier JL. Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine. J Pediatr Ophthalmol Strabismus 2003; 40: 142-6.
    • (2003) J Pediatr Ophthalmol Strabismus , vol.40 , pp. 142-146
    • Dureau, P.1    Broyer, M.2    Dufier, J.L.3
  • 22
    • 0036796183 scopus 로고    scopus 로고
    • Follow-up and treatment of adults with cystinosis in the Netherlands
    • Geelen JM, Monnens LA, Levtchenko EN. Follow-up and treatment of adults with cystinosis in the Netherlands. Nephrol Dial Transplant 2002; 17: 1766-70.
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1766-1770
    • Geelen, J.M.1    Monnens, L.A.2    Levtchenko, E.N.3
  • 23
    • 0031229871 scopus 로고    scopus 로고
    • Nephropathic cystinosis
    • Gahl WA. Nephropathic cystinosis. Pediatr Rev 1997; 18: 302-4.
    • (1997) Pediatr Rev , vol.18 , pp. 302-304
    • Gahl, W.A.1
  • 25
    • 0017162218 scopus 로고
    • Ocular manifestations in cystinosis
    • Wong VG. Ocular manifestations in cystinosis. Birth Defects Orig Artic Ser 1976; 12: 181-6.
    • (1976) Birth Defects Orig Artic Ser , vol.12 , pp. 181-186
    • Wong, V.G.1
  • 26
    • 0015071328 scopus 로고
    • Adolescent cystinosis: Comparisons with infantile and adult forms
    • Goldman H, Scriver CR, Aaron K, Delvin E, Canlas Z. Adolescent cystinosis: comparisons with infantile and adult forms. Pediatrics 1971; 47: 979-88.
    • (1971) Pediatrics , vol.47 , pp. 979-988
    • Goldman, H.1    Scriver, C.R.2    Aaron, K.3    Delvin, E.4    Canlas, Z.5
  • 29
    • 0032798748 scopus 로고    scopus 로고
    • Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)
    • Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, et al. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab 1999; 66: 111-6.
    • (1999) Mol Genet Metab , vol.66 , pp. 111-116
    • Anikster, Y.1    Lucero, C.2    Touchman, J.W.3    Huizing, M.4    McDowell, G.5    Shotelersuk, V.6
  • 30
    • 0037682504 scopus 로고
    • Ueber die Cystinkrankheit im Kleinkindesalter unter besonderer Berücksichtigung des Augenbefundes
    • Burki E. Ueber die Cystinkrankheit im Kleinkindesalter unter besonderer Berücksichtigung des Augenbefundes. ophthalmologica 1941; 101: 257.
    • (1941) Ophthalmologica , vol.101 , pp. 257
    • Burki, E.1
  • 31
    • 33544456322 scopus 로고
    • Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease
    • Bickel H. Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease. Acta Paediatr 1953; 42: 581-5.
    • (1953) Acta Paediatr , vol.42 , pp. 581-585
    • Bickel, H.1
  • 32
    • 0014364505 scopus 로고
    • Hereditary chorioretinal degeneration and metabolic disturbances
    • Francois J. Hereditary chorioretinal degeneration and metabolic disturbances. Int Ophthalmol Clin 1968; 8: 911-27.
    • (1968) Int Ophthalmol Clin , vol.8 , pp. 911-927
    • Francois, J.1
  • 33
    • 0013832417 scopus 로고
    • Feature photo. Cystinosis with extensive choroidal involvement
    • Feature photo. Cystinosis with extensive choroidal involvement. Arch Ophthalmol 1965; 74: 868-9.
    • (1965) Arch Ophthalmol , vol.74 , pp. 868-869
  • 34
    • 0242575995 scopus 로고    scopus 로고
    • Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients
    • Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, et al. Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients. Br J Clin Pharmacol 2003; 56: 520-5.
    • (2003) Br J Clin Pharmacol , vol.56 , pp. 520-525
    • Anikster, Y.1    Lucero, C.2    Touchman, J.W.3    Huizing, M.4    McDowell, G.5    Shotelersuk, V.6
  • 37
    • 0347320495 scopus 로고    scopus 로고
    • Early oral cysteamine therapy for nephropathic cystinosis
    • Gahl WA. Early oral cysteamine therapy for nephropathic cystinosis. Eur J Pediatr 2003; 162 Suppl 1: S38-41.
    • (2003) Eur J Pediatr , vol.162 , Issue.SUPPL. 1
    • Gahl, W.A.1
  • 38
    • 0031981708 scopus 로고    scopus 로고
    • Clinical and molecular aspects of nephropathic cystinosis
    • McDowell GA, Town MM, van't Hoff W, Gahl WA. Clinical and molecular aspects of nephropathic cystinosis. J Mol Med 1998; 76: 295-302.
    • (1998) J Mol Med , vol.76 , pp. 295-302
    • McDowell, G.A.1    Town, M.M.2    Van't Hoff, W.3    Gahl, W.A.4
  • 41
    • 0018396358 scopus 로고
    • Psychosocial intellectual development of children with infantile cystinosis and cerebral atrophy
    • Ehrich JH, Wolff G, Stoeppler L, Heyer R, Offner G, Brodehl J. Psychosocial intellectual development of children with infantile cystinosis and cerebral atrophy (author's transl). Klin Padiatr 1979; 191: 483-92.
    • (1979) Klin Padiatr , vol.191 , pp. 483-492
    • Ehrich, J.H.1    Wolff, G.2    Stoeppler, L.3    Heyer, R.4    Offner, G.5    Brodehl, J.6
  • 42
    • 0018773350 scopus 로고
    • Evidence for cerebral involvement in nephropathic cystinosis
    • Ehrich JH, Stoeppler L, Offner G, Brodehl J. Evidence for cerebral involvement in nephropathic cystinosis. Neuropediatric 1979; 10: 128-37.
    • (1979) Neuropediatric , vol.10 , pp. 128-137
    • Ehrich, J.H.1    Stoeppler, L.2    Offner, G.3    Brodehl, J.4
  • 44
    • 0022512761 scopus 로고
    • Pupillary-block glaucoma associated with childhood cystinosis
    • Wan WL, Minckler DS, Rao NA. Pupillary-block glaucoma associated with childhood cystinosis. Am J Ophthalmol 1986; 101: 700-5.
    • (1986) Am J Ophthalmol , vol.101 , pp. 700-705
    • Wan, W.L.1    Minckler, D.S.2    Rao, N.A.3
  • 45
    • 0023105770 scopus 로고
    • Corneal transplant in boy with nephropathic cystinosis
    • Kaiser-Kupfer MI, Datiles MB, Gahl WA. Corneal transplant in boy with nephropathic cystinosis. Lancet 1987; 1: 331.
    • (1987) Lancet , vol.1 , pp. 331
    • Kaiser-Kupfer, M.I.1    Datiles, M.B.2    Gahl, W.A.3
  • 46
    • 0024287202 scopus 로고
    • Clear graft two years after keratoplasty in nephropathic cystinosis
    • Kaiser-Kupfer MI, Datiles MB, Gahl WA. Clear graft two years after keratoplasty in nephropathic cystinosis. Am J Ophthalmol 1988; 105: 318-9.
    • (1988) Am J Ophthalmol , vol.105 , pp. 318-319
    • Kaiser-Kupfer, M.I.1    Datiles, M.B.2    Gahl, W.A.3
  • 48
    • 0020623727 scopus 로고
    • Nephropathic cystinosis: Ineffectiveness of cysteamine therapy for ocular changes
    • Cantani A, Giardini O, Ciarnella Cantani A. Nephropathic cystinosis: ineffectiveness of cysteamine therapy for ocular changes. Am J Ophthalmol 1983; 95: 713-4.
    • (1983) Am J Ophthalmol , vol.95 , pp. 713-714
    • Cantani, A.1    Giardini, O.2    Ciarnella Cantani, A.3
  • 49
    • 0037233107 scopus 로고    scopus 로고
    • A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis
    • Tsilou ET, Thompson D, Lindblad AS, Reed GF, Rubin B, Gahl W, et al. A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis. Br J Ophthalmol 2003; 87: 28-31.
    • (2003) Br J Ophthalmol , vol.87 , pp. 28-31
    • Tsilou, E.T.1    Thompson, D.2    Lindblad, A.S.3    Reed, G.F.4    Rubin, B.5    Gahl, W.6
  • 50
    • 0024820923 scopus 로고
    • Crystal deposition following keratoplasty in nephropathic cystinosis
    • Katz B, Melles RB, Schneider JA. Crystal deposition following keratoplasty in nephropathic cystinosis. Arch Ophthalmol 1989; 107: 1727-8.
    • (1989) Arch Ophthalmol , vol.107 , pp. 1727-1728
    • Katz, B.1    Melles, R.B.2    Schneider, J.A.3
  • 51
    • 0023259361 scopus 로고
    • Recurrent crystal deposition after keratoplasty in nephropathic cystinosis
    • Katz B, Melles RB, Schneider JA. Recurrent crystal deposition after keratoplasty in nephropathic cystinosis. Am J Ophthalmol 1987; 104: 190-1.
    • (1987) Am J Ophthalmol , vol.104 , pp. 190-191
    • Katz, B.1    Melles, R.B.2    Schneider, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.