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
β¦ LIBER β¦
Photopic flicker ERG in cases of congenital night blindness and total color blindness
β Scribed by Makoto Nagata
- Publisher
- Springer-Verlag
- Year
- 1964
- Tongue
- English
- Weight
- 602 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0012-4486
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Mutations in the b-subunit of cGMP-phosphodiesterase (PDE6b) can lead to either progressive retinal disease, such as human retinitis pigmentosa (RP), or stationary disease, such as congenital stationary night blindness (CSNB). Individuals with CSNB in the Rambusch pedigree were found to carry the H2