Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.

Subjects

Subjects :

Adult
Consanguinity
Electroretinography
Exons genetics
Eye Diseases, Hereditary diagnosis
Eye Diseases, Hereditary physiopathology
Female
Follow-Up Studies
Genetic Diseases, X-Linked diagnosis
Genetic Diseases, X-Linked physiopathology
Humans
Male
Myopia diagnosis
Myopia physiopathology
Night Blindness diagnosis
Night Blindness physiopathology
Pedigree
Retina physiopathology
Eye Diseases, Hereditary genetics
Genetic Diseases, X-Linked genetics
Mutation, Missense
Myopia genetics
Night Blindness genetics
Receptors, Glutamate genetics

Details

Language :

English

ISSN :

1744-5094

Volume :

40

Issue :

2

Database :

MEDLINE

Journal :

Ophthalmic genetics

Publication Type :

Academic Journal

Accession number :

31063016

Full Text :

https://doi.org/10.1080/13816810.2019.1605389