Table 2.
Phenotypic characteristics and electrophysiological data of patients with GUCA1A mutations.
|
FamilyID/ PatientID/ GUCA1A mutation |
First symptoms (age) and course | Age (y) | Most recent phenotype (RE // LE) | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| VA | Refractive error | Visual field | Amplitudes ERG Scotopic // Photopic |
Implicit time ERG Scotopic // Photopic |
mfERG | EOG | OCT | Anterior segment | |||
| 141/I:1/ c.250C>T; p.L84F |
Loss of VA at early childhood (1-2 y), color vision deficiency, and photophobia. No NB | 75 | 0.05 // 0.05 |
+0.50 −2.50 90°// +0.50 −2.00 80° |
Central scotomas // Central and peripheral scotomas |
Low amplitudes // NR Figure 4(b) |
Normal // NR Figure 4(b) |
NR or diminished responses Figure 5(b) |
Normal | NP | Pseudophakia in BE |
| 141/II:1/ c.250C>T; p.L84F |
Early progressive loss of VA (17 y), mild color vision deficiency, and photophobia. No NB | 53 | 0.05 // 0.05 |
+050 −100 165°// +050 −075 15° |
Central and peripheral scotomas // Peripheral scotomas |
Normal // Low amplitudes Figure 4(c) |
Normal // Augmented Figure 4(c) |
NR or diminished responses | Normal | Neurosensorial atrophy Figure 3(b) |
Normal in BE |
| 141/II:3/ c.250C>T; p.L84F |
Early progressive loss of VA (13 y), color vision deficiency, and photophobia. No NB | 47 | 0.1 // 0.1 |
+0.75 −0.50 130° // +0.75 −0.50 50° |
Central and superior scotoma BE | Normal // Normal Figure 4(d) |
Normal // Mixed: Augmented Figure 4(d) |
Diminished responses Figure 5(c) |
Normal | NP | Normal in BE |
| 141/III:1/ c.250C>T; p.L84F |
Early progressive loss of VA (6 y), mild color deficiency, and photophobia. No NB | 25 | 0.3 // 0.3 |
−6.00 −3.50 180° // −5.00 −3.75 180° |
Central and peripheral scotomas BE | Normal // Very low amplitudes Figure 4(e) |
Normal // Augmented Figure 4(e) |
Diminished responses | Normal | Neurosensorial atrophy Figure 3(a) |
Normal in BE |
| 141/III:4/ c.250C>T; p.L84F |
Early progressive loss of VA (6 y), photophobia. No NB | 12 | 0.4 // 0.4 |
+0.50 −0.50 110° // +0.50 −0.75 85° |
Normal // Central low density scotoma | Normal // Low amplitudes Figure 4(f) |
Normal // Augmented Figure 4(f) |
Diminished responses Figure 5(d) |
Normal | NP | Normal in BE |
|
| |||||||||||
| 387/III:2/ c.250C>T; p.L84F |
Loss of VA (36 y), color vision deficiency, and photophobia. No NB | 38 | 0.7 // 0.6 |
NP | Central scotoma | Low amplitudes // Low amplitudes |
NP | NP | NP | Sparse RPE alteration at the macula | Normal in BE |
RE: right eye; LE: left eye; VA: visual acuity; ERG: electroretinogram; mfERG: multifocal ERG; EOG: electrooculogram; OCT: optical coherence tomography; NB: night blindness; M: male; F: female; NR: nonrecordable; NP: not performed; BE: both eyes; RPE: retinal pigment epithelium.