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Clinical and Genetic Characterization of a Chinese Family with CSNB1

  • Ruifang Sui
  • Fengrong Li
  • Jialiang Zhao
  • Ruxin Jiang
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 613)

Human congenital stationary night blindness (CSNB) is a group of non-progressive retinal dystrophies characterized by night blindness from birth and other symptoms such as myopia, hyperopia, reduced visual acuity and occasionally accompanied by nystagmus, and optic disc hypoplasia (Heonand and Musarella, 1994). CSNB can be inherited on autosomal dominant, autosomal recessive and X-linked recessive mode. According to the clinical and genetic studies, X-linked recessive CSNB (XLCSNB) can be divided into two subtypes: complete (CSNB1; MIM 310500) and incomplete (CSNB2; MIM 300710). The distinction between the two subtypes of XLCSNB is in electroretinogram (ERG) and in genetic basis.

Keywords

Chinese Family High Myopia Night Blindness Obligate Carrier Pathologic Myopia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Ruifang Sui
    • 1
  • Fengrong Li
    • 2
  • Jialiang Zhao
    • 3
  • Ruxin Jiang
    • 4
  1. 1.Department of OphthalmologyPeking Union Medical College HospitalChina
  2. 2.Department of OphthalmologyPeking Union Medical College HospitalChina
  3. 3.Department of OphthalmologyPeking Union Medical College HospitalChina
  4. 4.Department of OphthalmologyPeking Union Medical College HospitalChina

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