Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:143 |
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| Enthalten in: |
Documenta ophthalmologica. Advances in ophthalmology - 143(2021), 1 vom: 28. Aug., Seite 39-51 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ambrosio, Lucia [VerfasserIn] |
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| Links: |
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| Themen: |
Dark-adapted visual threshold |
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| Anmerkungen: |
Date Completed 20.10.2021 Date Revised 04.03.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1007/s10633-021-09818-y |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM320730360 |
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| 100 | 1 | |a Ambrosio, Lucia |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome |
| 264 | 1 | |c 2021 | |
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| 500 | |a Date Completed 20.10.2021 | ||
| 500 | |a Date Revised 04.03.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Dark-adapted visual threshold | |
| 650 | 4 | |a Full-field electroretinogram | |
| 650 | 4 | |a Sensorineural hearing loss | |
| 650 | 4 | |a Usher syndrome | |
| 700 | 1 | |a Hansen, Ronald M |e verfasserin |4 aut | |
| 700 | 1 | |a Moskowitz, Anne |e verfasserin |4 aut | |
| 700 | 1 | |a Oza, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Barrett, Devon |e verfasserin |4 aut | |
| 700 | 1 | |a Manganella, Juliana |e verfasserin |4 aut | |
| 700 | 1 | |a Medina, Genevieve |e verfasserin |4 aut | |
| 700 | 1 | |a Kawai, Kosuke |e verfasserin |4 aut | |
| 700 | 1 | |a Fulton, Anne B |e verfasserin |4 aut | |
| 700 | 1 | |a Kenna, Margaret |e verfasserin |4 aut | |
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