Table. Clinical Summary of 10 Patients.
| Characteristic | Patient ID (Institutional Identifier) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| MEH1 (GC18875) | MEH2 (GC20465) | MEH3 (GC20390) | MEH4 (GC18983) | CEI1 (CEI26198) | SK1 | SK2 | MEH5 (GC20101) | MEH6 (GC3513) | SK3 | |
| Age at last visit, y/sex | 36/F | 30/M | 54/F | 51/M | 24/F | 21/F | 23/F | 16/F | 49/F | 70/M |
| Age at onset, y | 30s | 20s | Late 40s | 30s | Late teens | <10 | Early teens | Early teens | <10 | Early teens |
| Presenting symptom | ||||||||||
| VA loss | Absent | Absent | Absent | Absent | Mild | Mild | Mild | Mild | Mild | Mild |
| Nyctalopia | Mild | Mild | Mild | Mild | Mild | Mild | Mild | Mild | Mild | Mild |
| BCVA snellen | 20/16 | 20/30 | 20/20 | 20/32 | 20/125 | 20/80 | 20/125 | NA | HM | LP |
| Fundus findings | ||||||||||
| Mac atrophy | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Moderate | Moderate |
| Bone spicules | Absent | Absent | Absent | Mild | Intermittent | Moderate | Intermittent | Absent | Absent | Moderate |
| AF | ||||||||||
| Central hypoAF | Moderate | Mild | Mild | Moderate | Moderate | Mild | Mild | Mild | Severe | Absent |
| HyperAF ring | Mild | Mild | Absent | Mild | Moderate | Mild | Mild | Intermittent | Absent | Absent |
| Periph hypoAF | Severe | Moderate | Mild | Severe | Intermittent | Mild | Moderate | Moderate | Severe | Severe |
| OCT | ||||||||||
| Fov | ||||||||||
| EZ loss | Absent | Intermittent | Mild | Mild | Severe | Moderate | Moderate | Severe | Severe | Severe |
| ONL loss | Intermittent | Mild | Mild | Moderate | Moderate | Moderate | Moderate | Moderate | Severe | Severe |
| PF | ||||||||||
| EZ loss | Severe | Severe | Moderate | Severe | Severe | Intermittent | Mild | Severe | Severe | Severe |
| ONL loss | Severe | Severe | Severe | Moderate | Moderate | Severe | Severe | Moderate | Severe | Severe |
| Mac edema | Absent | Moderate | Severe | Mild | Absent | Severe | Absent | Absent | Absent | Absent |
| VF (age, y) | ||||||||||
| Central scotoma | Absent | Absent | Mild | Absent | Mild | Absent | Absent | NA | Severe | Absent |
| VF constriction | To 30° (30) | Patchy loss (27) | To 10° (54) | To 5° (51) | N/I/S (23) | N/I/S (21) | To 30° (23) | NA | ND (47) | To 10° (61) |
| Electrophysiology (age, y) | ||||||||||
| ffERG: rod, cone function ↓ | Rod: ↓↓ Cone: ↓ (30) |
NA | Rod: ND Cone: ↓ (51) |
Rod: ↓↓↓ Cone: ↓ (37) Rod: ND Cone: ↓↓ (42) |
Rod: ↓↓↓ Cone: ↓↓ (23) |
Rod: ND Cone: ↓↓↓ (10) |
Rod: ND Cone: ND (12) |
Rod: ND Cone: ↓↓↓ (16) |
NA | Rod: ND Cone: ND (41) |
| PERG | ↓↓ | NA | ↓↓ | ↓↓ | NA | NA | NA | ↓↓↓ | NA | NA |
| mfERG: paracentral, Central | PC: ↓ C: Spared |
NA | PC: ↓ C: Spared |
PC: ↓↓ C: Spared |
NA | NA | NA | NA | NA | NA |
| Genetic analysis | ||||||||||
| Allele 1 | c.1213C>T (R405W) | 1-kb del | 1-kb del | c.1213C>T (R405W) | 1-kb del | c.883G>T (E295X) | c.883G>T (E295X) | 1-kb del | 1-kb del | 1-kb del |
| Allele 2 | c.1213C>T (R405W) | c.988G>A (V330I)a | c.837+5G>A (splice site)a | c.1213C>T (R405W) | c.461-3C>G (splice site)a | c.917T>A (L306H)a | c.917T>A (L306H)a | c.853A>G (I285V)a | c.1213C>T (R405W) | c.375-3C>G (splice site)a |
Abbreviations: AF, autofluorescence; BCVA, best-corrected visual acuity; C, central; c, cDNA sequence with nucleotide position and change; CEI, Casey Eye Institute; ERG, electroretinography; EZ, ellipsoid zone; ffERG, full-field ERG; Fov, foveal; hyperAF, hyper-autofluorescence; hypoAF, hypo-autofluorescence; LP, light perception; MEH, Moorfields Eye Hospital; mfERG, multifocal ERG; NA, not applicable; ND, not detectable; N/I/S, nasal/inferior/superior; OCT, optical coherence tomography; ONL, outer nuclear layer; mac, macular; PC, paracentral; PERG, pattern ERG; periph, peripheral; PF, parafoveal; SK, the Hospital for Sick Children; VA, visual acuity; VF, visual field; 1-kb del, c.461-280_677+382del966 (p.Gly154Alafs*29,Val155_Gly264del); ↓, decreased.
Novel mutation.