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. 2010 Sep;51(9):4771–4780. doi: 10.1167/iovs.09-4561

Table 1.

Summary of Findings

Family/Patient Sex Age (y) Symptoms Presenting Visual Acuity OD-OS Current Visual Acuity OD-OS Fundus AF Imaging ERG PERG Visual Fields Color Vision
AII:2 F 47 Reduced VA (20 y) 6/60–6/60 NP Beaten metal appearance, macular RPE atrophy, flecks NP NP NP NP Moderate generalized dyschromatopsia
AII:4 M 52 Reduced VA (17 y) 6/120–6/120 NP Macular RPE atrophy and hyperpigmentation NP NP NP NP Moderate generalized dyschromatopsia
AII:7 M 57 Reduced VA (18 y) No driving at night (32 y) CF-CF NP Extensive macular RPE atrophy and pigmentation NP NP NP NP Moderate generalized dyschromatopsia
AIII:1 F 15 Reduced VA (10 y) 6/60–6/60 NP BEM, beaten metal appearance NP NP NP NP Moderate generalized dyschromatopsia
AIII:2 F 30 Asymptomatic 6/6–6/7.5 NP Mild foveal pigmentary change NP NP NP NP Moderate generalized dyschromatopsia
AIII:4 F 22 Asymptomatic 6/9–6/9 NP BEM NP NP NP NP Moderate generalized dyschromatopsia
AIII:8 F 30 Reduced VA (24 y) 6/24–6/24 NP RPE hyperpigmentation and macular atrophy NP NP NP NP Moderate generalized dyschromatopsia
AIII:10 F 31 Glaucoma (10–20 y); congenital cataract OU 6/120–6/45 NP BEM NP NP NP NP Moderate generalized dyschromatopsia
AIII:12 F 35 Reduced VA (23 y) 6/18–6/60 NP BEM, macular RPE atrophy NP NP NP NP Moderate generalized dyschromatopsia
AIII:14 M 34 Reduced color vision (25 y) Reduced VA (29 y) 6/48–6/48 NP BEM, macular RPE atrophic lesions, flecks NP Scotopic amplitude reduced with normal implicit time OU NP Central scotoma with normal peripheral field OU Moderate generalized dyschromatopsia
AIII:19 F 32 Reduced VA (15 y) 6/120–6/15 NP BEM NP NP NP NP NP
AIII:22 F 23 Reduced VA (15 y) NP NP BEM, flecks NP Mildly reduced flicker ERG amplitude with normal implicit time, normal scotopic ERG OU NP NP Severe generalized dyschromatopsia
AIII:23 M 13 Asymptomatic 6/6–6/6 NP Mild RPE changes NP NP NP NP Moderate generalized dyschromatopsia
AIV:1 F 5 Asymptomatic 6/6–6/6 NP Normal NP NP NP NP Mild generalized dyschromatopsia
BIII:2 F 69 Reading difficulties (24 y)
Central visual field loss (24 y)
6/4–6/4 (24 y) 6/24–6/36 Bilateral macular granular pigmentation (24 y) Bilateral BEM (69 y) NP Mildly reduced rod responses, borderline cone responses Undetectable Bilateral central scotomate (24 y) Moderate generalized dyschromatopsia
BIII:6 F 67 Reading difficulties (12 y)
Photophobia (12 y)
6/6–6/6 (12 y) 6/18–6/9 Bilateral BEM with a well-demarcated area of RPE atrophy at the right macula (67 y) Bilateral “bull's eye' lesions (OS>OD): ring of decreased perifoveal AF bordered centrally > peripherally by increased AF. Area of reduced AF in OD corresponding to atrophy. Mildly reduced rod responses Undetectable Bilateral central scotomata (67 y) Mild generalized dyschromatopsia
BIV:2 F 47 Glare at night (41 y) 6/5–6/5 (41 y) 6/6–6/6 Bilateral BEM Bilateral “bull's eye' appearance N Undetectable Bilateral central scotomata (41 y) Mild generalized dyschromatopsia
BIV:6 F 43 Photophobia (37 y) Glare at night (37 y) 6/5–6/5 (37 y) 6/5–6/5 Bilateral mild macular RPE mottling Bilateral perifoveal ring of mildly increased AF N Reduced OD > OS Normal N
BV:1 Proband F 23 Reading difficulties (12 y)
Metamorphopsia (12 y)
6/9–6/6 (13 y) 6/36–6/36 Bilateral macular RPE mottling Bilateral perifoveal ring of increased AF N Reduced Reduced central sensitivity Moderate generalized dyschromatopsia
BV:3 M 15 Reading difficulties (9 y) 6/6–6/6 (9 y) 6/9–6/9 Bilateral prominent foveal reflex, and a red speckled appearance at the level of the RPE Bilateral perifoveal ring of increased AF N NP NP Mild protan and deutan defect
BV:4 F 20 Impaired color vision (14 y) 6/5–6/5 (14 y) 6/6–6/5 Bilateral prominent foveal reflex, and a red speckled appearance at the level of the RPE Bilateral perifoveal ring of mildly increased AF N N NP Mild generalized dyschromatopsia
CII:1 F 60 Subcapsular cataract (50 y)
Night blindness (58 y)
6/6–6/6 (39 y) 6/7.5–6/7.5 (50 y)
6/12–6/15 (58 y)
BEM (50 y)
Macular atrophy OS (58 y) OD (62 y)
Peripheral pigment (55 y)
Attenuated arteries (58 y) (Fig 3)
NP Undetectable rod and cone responses (55 y) NP OD 60°
OS 50° (58 y)
NP
CIII:1 F 58 Photopsia (35 y)
Reading difficulties (45 y)
Night blindness (46 y)
Visual field loss (58 y)
6/6–6/6 (19 y) HM-6/6 (46 y) <6/120–<6/120 (56 y) BEM (46 y)
Macular atrophy (56 y)
Peripheral pigment (46 y)
Attenuated arteries (58 y)
Pale disc (58 y)
Macular ring (Figure 3) Moderately reduced rod responses, mildly reduced cone responses (46 y) NP Normal (46 y)
OD Complete Loss
OS 50° (58 y)
NP
CIII:3 F 58 Reading difficulties (36 y)
Photophobia (48 y)
Visual field loss (48 y)
Night blindness (52 y)
Photopsia (52 y)
6/4.8–6/4.8 (34 y) 6/4.8–6/4.8 (34 y)
6/15–6/12 (52 y)
BEM (34 y)
Mecular atrophy (52 y)
Salt and pepper dystrophy (50 y)
Attenuated arteries (50 y)
Pale disc (56 y)
Mottled Undetectable rod responses, severely reduced cone responses (56 y) NP Normal (34 y)
OU 50° (56 y)
NP
CIII:6 F 58 Reading difficulties (16 y)
Night blindness (30 y)
Subcapsular cataract (42 y)
6/4.8–6/6 (16 y) 6/19–6/19 (28 y)
6/60–6/30 (42 y)
BEM (28 y)
Macular atrophy (42 y)
Peripheral pigment (28 y)
Attenuated arteries (28 y)
Pale disc (28 y) (Fig. 3)
Mottled (Fig 3) Moderately reduced rod responses, mildly reduced cone responses (35 y) NP Normal (28 y)
OD 90°
OS 75° (30 y)
OD Complete loss
OS 2–3° (58 y)
NP
CIV:1 F 41 Reading difficulties (24 y) 6/6–6/15 (24 y) 6/6–6/15 (24 y)
6/60–6/60 (39 y)
BEM (24 y)
Macular atrophy (39 y)
Attenuated arteries (39 y)
Pale disc (41 y)
Macular ring Moderately reduced rod responses, mildly reduced cone responses (39 y) NP Bilateral central scolomata (39 y) NP
CIV:5 F 31 Reading difficulties (14 y)
Photophobia (29 y)
Subcapsular cataract (31 y)
6/7.5–6/4.8 (7 y) 6/7.5–6/4.8 (7 y)
6/120–6/60 (26 y)
BEM (7 y)
Macular atrophy (26 y)
Attenuated arteries (29 y)
Pale disc (29 y)
Mottled Undetectable rod and cone responses (29 y) NP Normal (10 y)
OU 30° (29 y)
NP
DII:2 F 65 Reading difficulties (40 y) 6/60–6/60 (64 y) 6/60–6/60 Bilateral macular atrophy and pigmentation (64 y) (Fig. 4) Bilateral reduced macular AF corresponding to atrophy, surrounded by high intensity AF rings (Fig. 4) Mildly reduced rod responses and borderline cone responses Markedly reduced Bilateral central scotomata (64 y) NP
DIII:1 Proband F 32 Central scotomata (29 y)
Right amblyopia
6/18–6/9 (29 y) 6/18–6/12 Bilateral BEM and optic nerve head drusen (29 y) (Fig. 4) Bilateral perifoveal rings of increased AF surrounding mildly reduced foveal AF (Fig. 4) N Undetectable Bilateral central scotomata (29 y) NP
EIII:1 Proband F 44 Photophobia (since childhood) 6/5–6/5 (34 y) 6/6–6/6 Bilateral BEM (34 y) Bilateral “bull's eye' lesions: ring of decreased perifoveal AF bordered peripherally > centrally by annuli of increased AF N (35 y) Markedly reduced Bilateral central scotomata (34 y) Mild generalized dyschromatopsia
EIII:3 F 54 Reading difficulties (44 y)
Reduced color vision (44 y)
6/9–6/5 (44 y) 6/12–6/6 Bilateral BEM and optic nerve head drusen (44 y) Speckled appearance with areas of increased and decreased AF N (44 y) Markedly reduced Bilateral central scotomata (44 y) Mild gene ralized dyschromatopsia

NP, not performed; N, normal.