Table 1.
Clinical characteristics of the included patients. Data from the first and last exam are stated when they differed.
| Patient ID | Age at the First and Last Examination (years) | Age at Onset | Ishihara | Refraction (Dioptre) | BCVA, logMAR (Snellen Decimal) | Visual Field | Fundus Features | Fundus Autofluorescence | OCT | Ring Area [mm2] (Ring Diameter [μm]) |
Electroretinography | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BE | RE | LE | RE | LE | RE | LE | ||||||||
| 1 | 31; 33 |
Childhood: Refraction error (myopia), early 30s: loss of central vision, photophobia | 1/15 | −17.00–3.00/75° | −2.25–0.75/11° (pseudophakic eye after vitrectomy) |
1.5 (0.03); 1.6 (0.02) |
2.1 (0.0075); 1.5 (0.03) |
Central scotoma |
BE: Bull’s eye appearance of macula, optic pallor, attenuated vessels. LE: Bone spicules in the central and peripheral retina (after retinal detachment) | BE: Hyperautoflourescent ring; LE: RPE mottling in the inferior temporal retina (after retinal detachment) |
BE: Absent RPE, Ise, and ELM in the central macula | 26.1 (6342); 27.0 (6635) |
21.6 (4267); 22.1 (4280) |
BE: Undetectable PERG, normal DA ERG, undetectable LA ERG, significantly reduced mfERG |
| 2 * | 35; 38 |
Childhood: refraction error (myopia), early 30s: Loss of central vision, difficulties in colour discrimination and night blindness | 1/15 | −2.25–1.0/34° | −2.0–0.5/139° | 0.3 (0.5); 0.7 (0.2) |
0.2 (0.6); 0.5 (0.3) |
Central scotoma |
BE: Bull’s eye appearance of macula, optic pallor, attenuated vessels | BE: Hyperautofluorescent ring |
BE: Absent RPE, Ise, and ELM in the central macula LE: Remnants of ELM in the foveola |
8.6 (3618); 11.3 (4284) | 7.5 (3462); 8.6 (3623) |
BE: Significantly reduced PERG, normal DA ERG, significantly reduced and delayed LA ERG, reduced mfERG |
| 3 * | 38; 49 |
Childhood refraction error (myopia), early 30s: Photophobia, difficulties in colour discrimination | 1/15 | −12.0–2.0/80° | −14.0–4.0/90° | 2.1 (0.0075); 1.5 (0.03) | 1.8 (0.015); 1.5 (0.03) |
Central scotoma |
BE: Bull’s eye appearance of macula, optic pallor, attenuated vessels | BE: Hyperautofluorescent ring |
BE: Absent RPE, Ise, and ELM in the central macula with remnants of the ELM in the foveola | 10 (3917); 11.2 (4100) | 9.0 (3778); 11.3 (4081) |
BE: Undetectable PERG; normal DA ERG, significantly reduced to undetectable LA ERG |
Abbreviation explanation: LE—left eye, RE—right eye, BE—both eyes, BCVA—best corrected visual acuity, CC—cum correctione, P CC—partial cum correctione, OCT—optical coherence tomography, ERG—electroretinography, mfERG—multifocal ERG, PERG—pattern ERG, LA—light adapted, DA—dark adapted. * Brothers.