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)
VARefractive errorVisual fieldAmplitudes ERG
Scotopic //
Photopic
Implicit time ERG
Scotopic //
Photopic
mfERGEOGOCTAnterior segment

141/I:1/
c.250C>T;
p.L84F
Loss of VA at early childhood (1-2 y), color vision deficiency, and photophobia. No NB750.05
//
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)
NormalNPPseudophakia in BE
141/II:1/
c.250C>T;
p.L84F
Early progressive loss of VA (17 y), mild color vision deficiency, and photophobia. No NB530.05
//
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 responsesNormalNeurosensorial 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 NB470.1
//
0.1
+0.75 −0.50 130°  
// +0.75 −0.50 50°
Central and superior scotoma BENormal //
Normal
Figure 4(d)
Normal // Mixed: Augmented
Figure 4(d)
Diminished responses
Figure 5(c)
NormalNPNormal in BE
141/III:1/
c.250C>T;
p.L84F
Early progressive loss of VA (6 y), mild color deficiency, and photophobia. No NB250.3
//
0.3
−6.00 −3.50 180°  
// −5.00 −3.75 180°
Central and peripheral scotomas BENormal //
Very low amplitudes
Figure 4(e)
Normal //
Augmented
Figure 4(e)
Diminished responsesNormalNeurosensorial atrophy
Figure 3(a)
Normal in BE
141/III:4/
c.250C>T;
p.L84F
Early progressive loss of VA (6 y), photophobia. No NB120.4
//
0.4
+0.50 −0.50 110°  
// +0.50 −0.75 85°
Normal // Central low density scotomaNormal //
Low amplitudes
Figure 4(f)
Normal //
Augmented
Figure 4(f)
Diminished responses
Figure 5(d)
NormalNPNormal in BE

387/III:2/
c.250C>T;
p.L84F
Loss of VA (36 y), color vision deficiency, and photophobia. No NB380.7
//
0.6
NPCentral scotomaLow amplitudes //
Low amplitudes
NPNPNPSparse RPE alteration at the maculaNormal 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.