Table 1.
Study Identification∗ | Gender | Age (yrs) |
Family History† | Phenotype | Snellen Visual Acuity (logMAR) |
Electrophysiology Findings | Mutation | Complement Control Protein Domain | GnomAD Allele Count (Allele Frequency) | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Age at onset∗ | At Most Recent Examination | Right Eye | Left Eye | ||||||||
A:II.3 | M | 18 | 51 | Yes | Bilateral, scattered or widespread early-onset drusen, RPE mottling at the fovea, reduced VA. | +5.75 (0.22; 6/9–1) | +3.75 (0.0; 6/6) | Normal and grossly symmetrical light-adapted response. Slightly reduced dark-adapted response in right eye suggesting asymmetrical rod involvement. Normal EOG results. | c.1243del, p.(Ala415Profs∗39) het | 7 | — |
A:II.1 | M | 16 | 49 | Bilateral widespread drusen, concentrated temporal to and within the macula. | 6/3.8–1 | 6/3.8–1 | Normal and grossly symmetrical light-adapted response. Slightly reduced dark-adapted response in left eye suggesting asymmetrical rod involvement. Normal EOG results. | ||||
B:II.2 | F | 80 | 89 | Yes | Bilateral, symmetrical, outer retinal atrophy, multiple drusen, severe visual loss. | — | — | NA | c.350+1G→T het | 2 | 1/245972 (0.000004066) |
B:I.1 | M | 61 | 61 | Multiple drusen bilaterally, pattern similar to that seen in affected mother (B.II.1). | 6/6 | 6/6 | NA | ||||
C:I.2 | F | 54 | 64 | Yes | Bilateral drusen surrounding central atrophy and extending into the arcades. Patchy atrophy in the peripheral retina with reticular and drusenoid features. | 6/6 | 6/15 | NA | c.694C→T p.(Arg232Ter) het‡ | 4 | 2/244650 (0.000008175) |
D:I.7 | F | 26 | 50 | Yes | Large “colloid” drusen. | 6/5 | 6/5 | NA | c.694C→T p.(Arg232Ter) het‡ | 4 | 2/244650 (0.000008175) |
D:II.2 | M | 50 | 64 | Bilateral retinal drusenoid dystrophy with CNV and significant scarring. | 1/60 | 6/24 | NA | ||||
E:II.2 | F | 50 | 52 | Yes | Early-onset macula dystrophy, macular and midperipheral drusen. | 6/120 (1.34) | 6/96 (1.24) | Extinguished PERGs, normal EOG results, normal ERG results; Ishihara: 1/17 right eye, 2/17 left eye | c.1291T→A, p.(Cys431Ser) het‡ | 6 | 1/245702 (0.000004070) |
E:III.2 | M | 40 | 53 | Bilateral small, sparse drusen at the maculae. | 6/4 | 6/7.5 | NA | ||||
F:II.2 | F | 46 | 54 | Yes | Isolated sparse drusen within the macula and temporal raphes. | 6/6 (–4/–1.00 × 180) | 6/4.8 (–4.50/–1.00 × 170) | NA | c.380G→A, p.(Arg127His) het‡ | 2 | 2/121206 (0.0000165) |
G:III.7 | F | 45 | 66 | Yes | Bilateral large, sparse white/yellow drusen at the maculae, nasal to the disc and the surrounding arcades. Patchy geographic atrophy in the left eye. | 6/6 (+2.75/–1.00 × 17) | 6/6 (+2.75/–1.50 × 165) | NA | c.619+1G→A het | 3–4 | — |
CNV = choroidal neovascularization; EDT = electrodiagnostic testing; EOG = electrooculogram; ERG = electroretinogram; F = female; M = male; NA = not available; PED = pigment epithelial detachment; PERG = pattern electroretinogram; RPE = retinal pigment epithelium; VA = visual acuity; — = measurement not possible.
Age at onset was defined as age at which retinal changes were detected first.
A positive family history was defined as another blood relative reported to be affected by macular disease or drusen.
Mutation previously reported as disease causing.