Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Hayashi, Takaaki

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. [electronic resource] - Documenta ophthalmologica. Advances in ophthalmology 04 2020 - 147-157 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1573-2622

10.1007/s10633-019-09727-1 doi


ATP-Binding Cassette Transporters--genetics
Adolescent
Adult
Aged
Child
Child, Preschool
Cone-Rod Dystrophies--genetics
Electroretinography
Eye Diseases, Hereditary--genetics
Female
Genetic Diseases, X-Linked--genetics
Humans
Male
Middle Aged
Myopia--genetics
Night Blindness--genetics
Pedigree
Phenotype
Photic Stimulation
Polymorphism, Single Nucleotide
Retina--physiology
Retinal Cone Photoreceptor Cells--physiology
Tomography, Optical Coherence
Transducin--genetics
Visual Acuity--physiology
Exome Sequencing