title: Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.
abstract: 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 7-70 years. 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. 17 years, respectively; p<0.01); however no significant differences were found regarding type of autofluorescence patterns, frequency of foveal lesions and CME, rate of disease progression and age at legal blindness. All representative eyes had abnormal fundus autofluorescence of either hyperautofluorescent ring (55%), hyperautofluorescent foveal patch (35%) or foveal atrophy (10%). Disease duration of more than 30 years was associated with a high incidence of abnormal central fundus autofluorescence (patch or atrophy) and visual acuity loss.
authors.affiliation: Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia. ana.fakin@gmail.com
authors.forename: Ana
authors.initials: A
authors.lastname: Fakin
authors.forename: Martina
authors.initials: M
authors.lastname: Jarc-Vidmar
authors.forename: Damjan
authors.initials: D
authors.lastname: Glavač
authors.forename: Crystel
authors.initials: C
authors.lastname: Bonnet
authors.forename: Christine
authors.initials: C
authors.lastname: Petit
authors.forename: Marko
authors.initials: M
authors.lastname: Hawlina
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D055253:Color Vision / Q000502:physiology; D003430:Cross-Sectional Studies; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D012160:Retina / Q000503:physiopathology*; D041623:Tomography, Optical Coherence; D052245:Usher Syndromes / Q000503:physiopathology*; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult