RHO |
Rhodopsin gene |
RP |
Retinitis pigmentosa |
NBWD |
Night blindness without degeneration |
CSNB |
Congenital stationary night blindness |
GCPR |
G-protein coupled receptor |
FAF |
Fundus autofluorscence imaging |
RE |
Right eye |
LE |
Left eye |
ERG |
Electroretinography |
RPE |
Retinal pigment epithelium |
RBP |
Retinal binding protein |
STRA6 |
Retinoic acid 6 |
CRBP1 |
Cellular retinol -binding protein 1 |
LRAT |
Retinol:lecithin acyltransferase |
RPE65 |
Retinoid isomerohydrolase |
CRALBP |
Cellular retinaldehyde-binding protein |
IRBP |
Interphotoreceptor retinoid-binding protein |
IU |
International Unit |
WT |
Wild-type |
DNA |
Deoxyribonucleic acid |
BWA |
Burrows-Wheeler aligner |
GATK |
Genome analysis toolkit |
CONIFER |
Copy number inference from exome reads |
GnomAD |
Genome aggregation database |
ACMG/AMP |
American College of Medical Genetics and Genomics/Association for Molecular Pathology |
OCT |
Optical coherence tomography |
DA |
Dark adapted |
LA |
Light adapted |
HPLC |
High-performance liquid chromatography |