| 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 |