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. 2023 Feb 23;13(5):850. doi: 10.3390/diagnostics13050850
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