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. 2017 Feb 22;25(5):591–599. doi: 10.1038/ejhg.2017.9

Table 3. Detection rate of (likely) causative variants per visual impairment (sub)type.

(Sub)type of visual impairment Total number of cases Percentage of cases with (likely) causative variants (%)
Achromatopsia 2 100
Stargardt disease 5 100
Retinitis pigmentosa 129 63
Leber congenital amaurosis 15 60
Developmental eye defect 6 50
Cone dystrophy 19 47
Cone–rod dystrophy 30 43
Cataract 6 33
Macular dystrophy 25 28
Retinal dystrophy 20 25
Optic atrophy 6 17
Glaucoma 2 0
Myopia 1 0
Total 266 52