Autosomal Dominant Congenital Stationary Night Blindness and Normal Fundus With an Electronegative Electroretinogram
β Scribed by Noble, Kenneth G.; Carr, Ronald E.; Siegel, Irwin M.
- Book ID
- 127157134
- Publisher
- Elsevier Science
- Year
- 1990
- Tongue
- English
- Weight
- 622 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0002-9394
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More than 100 mutations within the rhodopsin gene have been found to be responsible for some forms of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and subsequent disturbance of day vision that may eventually result in total blindness. Congenital stationar
Congenital stationary night blindness (CSNB) is a non-progressive Mendelian condition resulting from a functional defect in rod photoreceptors. A small number of unique missense mutations in the genes encoding various members of the rod phototransduction cascade, e.g. rhodopsin (RHO), cGMP phosphodi