%0 Journal Article %J Doc Ophthalmol %D 2021 %T Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome %A Ambrosio, Lucia %A Hansen, Ronald M %A Moskowitz, Anne %A Oza, Andrea %A Barrett, Devon %A Manganella, Juliana %A Medina, Genevieve %A Kawai, Kosuke %A Fulton, Anne B %A Kenna, Margaret %X PURPOSE: To determine the utility of ophthalmology evaluation, dark-adapted threshold, and full-field electroretinogram for early detection of Usher syndrome in young patients with bilateral sensorineural hearing loss. METHODS: We identified 39 patients with secure genetic diagnoses of Usher Syndrome. Visual acuity, spherical equivalent, fundus appearance, dark-adapted threshold, and full-field electroretinogram results were summarized and compared to those in a group of healthy controls with normal hearing. In those Usher patients with repeated measures, regression analysis was done to evaluate for change in visual acuity and dark-adapted threshold with age. Spherical equivalent and full-field electroretinogram responses from dark- and light-adapted eyes were evaluated as a function of age. RESULTS: The majority of initial visual acuity and spherical equivalent results were within normal limits for age. Visual acuity and dark-adapted threshold worsened significantly with age in Usher type 1 but not in Usher type 2. At initial test, full-field electroretinogram responses from dark- and light-adapted eyes were abnormal in 53% of patients. Remarkably, nearly half of our patients (17% of Usher type 1 and 30% of Usher type 2) would have been missed by tests of retinal function alone if evaluated before age 10. CONCLUSIONS: Although there is an association of abnormal dark-adapted threshold and full-field electroretinogram at young ages in Usher patients, it appears that a small but important proportion of patients would not be detected by tests of retinal function alone. Thus, genetic testing is needed to secure a diagnosis of Usher syndrome. %B Doc Ophthalmol %V 143 %P 39-51 %8 2021 Aug %G eng %N 1 %1 http://www.ncbi.nlm.nih.gov/pubmed/33511521?dopt=Abstract %R 10.1007/s10633-021-09818-y