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. Author manuscript; available in PMC: 2019 Oct 4.
Published in final edited form as: Genet Med. 2019 Mar 30;21(10):2336–2344. doi: 10.1038/s41436-019-0495-0

Fig. 1. Clinical and diagnostic profile of ABCA4-negative study cases.

Fig. 1

The study cohort consisted predominantly of Stargardt disease (43%) and cone–rod dystrophy (30%). Approximately one-fifth of cases exhibited features consistent with pattern dystrophy (11%) and bull’s eye maculopathy (10%) (a). Cases presenting with nonspecific, early-onset macular disease classified as macular dystrophy (3%) and those with suspected ABCA4-related retina-wide degeneration or retinitis pigmentosa–like phenotypes were classified as “other” (3%). Cases in whom disease-causing variants in PRPH2 were identified by collapsing analysis exhibited a range of phenotypes on autofluorescence (488-nm excitation) consistent with pattern or butterfly macular dystrophy (b–d). All cases with causal variants identified in CRX presented with elliptical bull’s eye maculopathies and a cone–rod pattern of attenuation on full-field electroretinogram (e–g).