Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2

[Display omitted] . ► Fifty-four patients with Usher syndrome of different subtypes were studied. ► Age at onset of nyctalopia was lower in USH1 than USH2 patients. ► Disease expression in retina of different Usher subtypes was similar. ► Hyperautofluorescent ring was seen in up to 30years after onset of nyctalopia. ► Hyperautofluorescent patch was seen after 30years with concurrent loss of vision. Purpose of this study was to characterize retinal disease in Usher syndrome using fundus autofluorescence and optical coherence tomography. Study included 54 patients (26 male, 28 female) aged 7–70years. There were 18 (33%) USH1 and 36 (67%) USH2 patients. 49/52 (94%) patients were found to carry at least one mutation in Usher genes. Ophthalmological examination included assessment of Snellen visual acuity, color vision with Ishihara tables, Goldmann visual fields (targets II/1–4 and V/4), microperimetry, fundus autofluorescence imaging and optical coherence tomography. Average age at disease onset (nyctalopia) was significantly lower in USH1 than USH2 patients (average 9 vs. 17years, respectively; p