ACMG |
American College of Medical Genetics and Genomics |
AMD |
Age-related macular degeneration |
arRP |
Autosomal recessive retinitis pigmentosa |
BCVA |
Best corrected visual acuity |
CRA |
Central retina atrophy |
cRORA |
Complete RORA |
CS |
Cumulative score |
ERG |
Electroretinogram |
EYS |
Eyes shut homolog |
EZ |
Ellipsoid zone |
F |
Female |
FERG |
Focal ERG |
GA |
Geographic atrophy |
HET |
Heterozygous |
HOM |
Homozygous |
iRORA |
Incomplete RORA |
LE |
Left eye |
LogMAR |
Logarithm of minimum angle of resolution |
LP |
Likely pathogenic |
M |
Male |
MLPA |
Multiplex ligation-dependent probe amplification |
NA |
Not available |
NGS |
Next Generation Sequencing |
OCT |
Optical coherence tomography |
ONL |
Outer nuclear layer |
P |
Pathogenic |
RE
|
Right eye
|
RORA
|
RPE and outer retinal atrophy
|
RPE |
Retinal pigment epithelium |
RP-SSS |
RP stage scoring system |
SD-OCT |
Spectral domain optical coherence tomography |
SRI |
Sub-retinal pigment epithelium illumination |
VF |
Visual Field |
VUS |
Variant of unknown significance |