| FAF | Fundus autofluorescence |
| CADD | Combined annotation-dependent duplication |
| CNV | Copy Number Variant |
| ECD | Exocytoplasmic domain |
| EDT | Electrodiagnostic testing |
| MLPA | Multiplex ligation-dependent probe amplification |
| NGS | Next-Generation Sequencing |
| NBD | Nucleotide-binding domain |
| NMD | Nonsense-mediated decay |
| SD-OCT | Spectral-domain optical coherent tomography |
| Sm-MIPs | Single-molecule molecular inversion probes |
| Stargardt disease | STGD1 |
| TMD | Transmembrane domain |
| SIFT | Sorting Intolerant from Tolerance |
| ISCEV | International Society for Clinical Electrophysiology of Vision |