Figure 1.

Clinical details of the 266 Dutch patients with visual impairment. In our cohort of patients with visual impairment 13 different (sub)types of inherited eye disorders were clinically diagnosed. Most cases had an IRD, including 129 patients (49%) with retinitis pigmentosa, 44 patients (16%) with cone or macular dystrophy, 30 patients (11%) with cone–rod dystrophy and 15 patients (6%) with Leber congenital amaurosis. Furthermore, six patients with cataract, six patients with developmental eye disorders, including patients with aniridia, coloboma, microcornea and micro- or nanopthalmos and six patients with optic atrophy were included. The group of retinal dystrophies contained unspecified retinal dystrophies (n=20) and rare forms of retinal dystrophies, including patients with benign concentric annular macular dystrophy, bradyopsia, congenital stationary night blindness, cystoid macular dystrophy, enhanced S-cone syndrome, foveal hypoplasia or night blindness with retinal detachment.