Table 2.
Characteristics of optical gap phenotype by diagnosis
| Diagnosis | Patients | Age of onset | Average gap width (μm) | Average gap height (μm) | EZ disruption | ELM Reflectivity | Changes on AF | Disease Duration | Average BCVA at presentation | Interocular Discordance | ffERG | Other characteristics |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| STGD | 12 | 19.8±4.4 | 704.0±287.3 | 51.8±23.2 | Continuous | Yes | Yes | Progressive | 0.614 (n=10) | Yes | Unchanged | HyperAF flecks |
| ACHM | 12 | 12.9±9.2† | 679.4±408.4 | 52.0±49.7 | Continuous | Yes | Yes | Slowly progressive | 0.752 (n=12) | No | Decreased photopic | Foveal hypoplasia |
| CORD/M D |
7 | 44.5±12.9 § |
1504.6±852. 7 | 40.5±17.2 | Intermittent | Yes | Yes | Progressive | 0.631 (n=6) | Yes | Decreased photopic | Central lesion on AF and fundus exam |
| OMD | 5 | 36.3±18.1 | 547.1±242.9 | 30.3±9.1 | Intermittent | No | Occult | Slowly progressive | 0.641 (n=4) | No | Unchanged | Abnormal mfERG |
†
3 patients noted onset from childhood who were not included
§
1 patient noted onset from childhood who was not included,
STGD – Stargardt disease, ACHM – achromatopsia, CORD/MD – cone, cone-rod dystrophy and macular dystrophy, OMD – occult macular dystrophy EZ – ellipsoid zone, ELM – external limiting membrane, AF – autofluorescence, BCVA – best corrected visual acuity, ffERG – full field electroretinogram, mfERG – multifocal electroretinogram