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. 2019 Oct;126(10):1410–1421. doi: 10.1016/j.ophtha.2019.03.013

Table 1.

Phenotypic and Genetic Findings in Early-Onset Macular Drusen Patients with CFH Mutations

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.(Ala415Profs39) 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.