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Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

PMID: 33511521 (view PubMed database entry)
DOI: 10.1007/s10633-021-09818-y (read at publisher's website )

Lucia Ambrosio, Ronald M Hansen, Anne Moskowitz, Andrea Oza, Devon Barrett, Juliana Manganella, Genevieve Medina, Kosuke Kawai, Anne B Fulton, Margaret Kenna,

<h4>Purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.

Doc Ophthalmol (Documenta ophthalmologica. Advances in ophthalmology)
[2021, 143(1):39-51]

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