Table 1. Clinical Characteristics in Pediatric Patients With Complete CSNB With TRPM1 Mutations.
| Clinical Features | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 |
|---|---|---|---|---|---|---|---|
| Presenting age | 8 mo ± 4 mo | 8 mo ± 4 mo | 8 mo ± 4 mo | 8 mo ± 4 mo | 8 mo ± 4 mo | 8 mo ± 4 mo | 8 mo ± 4 mo |
| Strabismus | Yes; X(T)a (stereo 6/9) | Yes; E(T) and CN 4 palsy (stereo 0/9) | Yes; X(T) (stereo 5/9) | X (stereo 8/9)b | Yes; X(T)a | Yes; E(T) (stereo 3/9) | Yes; X(T) (stereo 0/9) |
| Nystagmus | Yesc | No | No | No | Yesc | No | Yes |
| Initial refractive error (SE) | OD: −2.00; OS: −3.50 |
OD: +1.00; OS: 0.25 |
OD: −8.50; OS: −8.50 |
OD: −8.25; OS: −7.75 |
OD: −1.00; OS: −1.50 |
OD: −3.50; OS: −3.50 |
OD: +3.75; OS: +3.75 |
| Systemic studies | Yes (MRI normal) | No | Yes (Stickler syndrome evaluation) | Yes (Stickler syndrome evaluation) | No | Yes (MRI normal) | Yes (MRI normal) |
| Initial clinical diagnosis | Spasmus mutans | CN 4 palsy | Pathologic myopia | Pathologic myopia | Myopia | Infantile nystagmus | Opsoclonus |
| Age nyctalopia reported | Progressive, preteen | Progressive, child | Progressive, child | None reported | None reported | Toddler | Child |
| First BCVA, y | 5 | 5 | 5 | 5 | 6 | 4 | 4 |
| First BCVA (Snellen/logMAR) | OD:20/50 (0.400); OS:20/30 (0.176) | OD: 20/50 (0.400); OS:20/70 (0.544) | OD:20/40 (0.301); OS:20/40 (0.301) | OD:20/20 (0.000); OS:20/25 (0.097) | OD: 20/70 (0.544); OS: 20/70 (0.544) | OD: 20/40 (0.301); OS: 20/30 (0.176) | OD: 20/100 (0.699); OS: 20/200 (1.00) |
| Age final, y | 15 | 14 | 11 | 9 | 9 | 15 | 10 |
| BCVA final, Snellen (logMAR) | OD: 20/20 (0.000); OS: 20/20 (0.000) | OD: 20/40 (0.301); OS: 20/70d (0.544) | OD: 20/25 (0.097); OS: 20/20 (0.000) | OD: 20/20 (0.000); OS: 20/20 (0.097) | OD: 20/80d (0.602); OS: 20/60 (0.477) | OD: 20/20 (0.000); OS: 20/20 (0.000) | OD: 20/40 (0.301); OS: 20/50 (0.398) |
| Final refractive error (SE) | OD: −4.00; OS: −4.25 |
OD: −5.50; OS: −6.50 |
OD: −13.75; OS: −14.00 |
OD: −9.00; OS: −8.00 |
OD: −6.50; OS: −6.00 |
OD: −13.50; OS: −14.00 |
OD: −9.00; OS: −10.25 |
| Color discrimination | Full | Full | Full | Full | Full | Full | Full |
| Fundus | ON: tilted; myopic; few hypo-pigmented areas | ON: tilted, temporal pallor; myopic fundus | ON: tilted; myopic, lattice | ON: tilted; myopic, cystic retinal tuft OD | ON: tilted; tessellated, myopic fundus | ON: tilted; myopic | ON: tilted; tessellated, myopic fundus |
| GVF | NML OU |
Mild I-2e depression (full to I-4e) OU; small central scotoma OU | Mild I-2e depression (full to I-4e) OU | Mild I-2e depression (full to I-4e) OU | Mild I-2e depression (full to I-4e) OU | Mild I-2e depression (full to I-4e) OU; small central scotoma OU | Mild I-2e depression (full to I-4e) OU |
| FST, dBe | OD: −34.5; OS: −31.5 |
OD: −28.2; OS: −26.6 |
OD: −31.4; OS: −29.6 |
OD: −26.6; OS: −28.9 |
OD: −22.5; OS: −27.8 |
OD: −29.2; OS: −27.4 |
OD: −36.0; OS: −35.5 |
| ffERG final | Electronegative DA 3.0 ERG | Electronegative DA 3.0 ERG | Electronegative DA 3.0 ERG | Electronegative DA 3.0 ERG | Electronegative DA 3.0 ERG | Electronegative DA 3.0 ERG | Electronegative DA 3.0 ERG |
| SD-OCT macula, CST, um; CV, mm2 | OD: 226 μm, 8.4 mm2; OS: 250 μm, 8.5 mm2 | OD: 246 μm, 6.01 mm2; OS: 234 μm, ND | OD: ND; OS: 387 μm, 11.68 mm2 | OD: 237 μm, 7.85 mm2; OS: 236 μm, 7.82 mm2 | OD: 259 μm, 8.29 mm2; OS: 275 μm, 8.01 mm2 | ND | OD: 233 μm, 8.56 mm2; OS: 235 μm, 7.91 mm2 |
Abbreviations: BCVA, best-corrected visual acuity; CN 4, congenital fourth nerve palsy; CSNB, congenital stationary night blindness; CST, central subfield thickness; CV, central volume; DA, dark-adapted; ERG, electroretinogram; ffERG, full field electroretinogram; ffFST, full-field sensitivity threshold test; FST, sensitivity threshold test; GVF, Goldmann visual field; E(T), intermittent esotropia; MRI, magnetic resonance imaging; ND, not done; NML, normal; SD-OCT, spectral-domain optical coherence tomography; SE, spherical equivalent; Stereo, stereopsis by Titmus testing given as number correct; Strab, strabismus; X(T), intermittent exotropia.
Had strabismus surgery.
Initially had orthophoria and then developed exophoria.
Nystagmus resolved by age 2 years in patients 1 and 5.
Amblyopia.
Normal FST is less than or equal to −55.00 dB.