Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Author:

Li Zheng,Sergouniotis Panagiotis I.,Michaelides Michel,Mackay Donna S.,Wright Genevieve A.,Devery Sophie,Moore Anthony T.,Holder Graham E.,Robson Anthony G.,Webster Andrew R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Congenital stationary night blindness with negative electroretinogram. A new classification;Miyake;Arch. Ophthalmol.,1986

2. On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness;Miyake;Jpn. J. Ophthalmol.,1987

3. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness;Bech-Hansen;Nat. Genet.,2000

4. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6;Dryja;Proc. Natl. Acad. Sci. USA,2005

5. Localization of mGluR6 to dendrites of ON bipolar cells in primate retina;Vardi;J. Comp. Neurol.,2000

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