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Volumn 13, Issue 6, 2009, Pages 610-612

Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MONOPHENOL MONOOXYGENASE;

EID: 71649084304     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2009.09.015     Document Type: Article
Times cited : (13)

References (9)
  • 1
    • 0017826072 scopus 로고
    • Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males
    • O'Donnell F.E., King R.A., Green W.R., and Witkop C.J. Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males. Ach Ophthalmol 96 (1978) 1621-1625
    • (1978) Ach Ophthalmol , vol.96 , pp. 1621-1625
    • O'Donnell, F.E.1    King, R.A.2    Green, W.R.3    Witkop, C.J.4
  • 2
    • 0028878474 scopus 로고
    • Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
    • Fukai K., Holmes S.A., Luchesse N.J., Siu V.M., Weleber R.G., and Schnur R.E. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9 (1995) 92-95
    • (1995) Nat Genet , vol.9 , pp. 92-95
    • Fukai, K.1    Holmes, S.A.2    Luchesse, N.J.3    Siu, V.M.4    Weleber, R.G.5    Schnur, R.E.6
  • 3
    • 41949098097 scopus 로고    scopus 로고
    • A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
    • Hutton S.M., and Spritz R.A. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. IOVS 49 (2008) 868-872
    • (2008) IOVS , vol.49 , pp. 868-872
    • Hutton, S.M.1    Spritz, R.A.2
  • 5
    • 0026150607 scopus 로고
    • A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity
    • Tripathi R.K., Giebel L.B., Strunk K.M., and Spritz R.A. A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expr 1 (1991) 103-110
    • (1991) Gene Expr , vol.1 , pp. 103-110
    • Tripathi, R.K.1    Giebel, L.B.2    Strunk, K.M.3    Spritz, R.A.4
  • 6
    • 62649158351 scopus 로고    scopus 로고
    • Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism
    • Gronskov K., Ek J., Sand A., et al. Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism. IOVS 50 (2009) 1058-1064
    • (2009) IOVS , vol.50 , pp. 1058-1064
    • Gronskov, K.1    Ek, J.2    Sand, A.3
  • 7
    • 47549089269 scopus 로고    scopus 로고
    • Visual insignificance of the foveal pit: Reassessment of foveal hypoplasia as fovea plana
    • Marmor M.F., Choi S.S., Zawadzki R.J., and Werner J.S. Visual insignificance of the foveal pit: Reassessment of foveal hypoplasia as fovea plana. Arch Ophthalmol 126 (2008) 907-913
    • (2008) Arch Ophthalmol , vol.126 , pp. 907-913
    • Marmor, M.F.1    Choi, S.S.2    Zawadzki, R.J.3    Werner, J.S.4
  • 8
    • 54049142109 scopus 로고    scopus 로고
    • Multimodal fundus imaging in foveal hypoplasia: Combined scanning laser ophthalmoscope imaging and spectral-domain optical coherence tomography
    • Charbel Issa P., Foerl M., Helb H.M., Scholl H.P., and Holz F.G. Multimodal fundus imaging in foveal hypoplasia: Combined scanning laser ophthalmoscope imaging and spectral-domain optical coherence tomography. Arch Ophthalmol 126 (2008) 1463-1465
    • (2008) Arch Ophthalmol , vol.126 , pp. 1463-1465
    • Charbel Issa, P.1    Foerl, M.2    Helb, H.M.3    Scholl, H.P.4    Holz, F.G.5
  • 9
    • 58449102790 scopus 로고    scopus 로고
    • Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography
    • Chong G.T., Farsiu S., Freedman S.F., et al. Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. Arch Ophthalmol 127 (2009) 37-44
    • (2009) Arch Ophthalmol , vol.127 , pp. 37-44
    • Chong, G.T.1    Farsiu, S.2    Freedman, S.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.