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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 |
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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 |
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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 |
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