AI Article Synopsis
- The study involved 37 patients with Usher syndrome type II (USH2), including 24 familial cases and 13 isolated ones, all undergoing ophthalmologic examination.
- The analysis suggested that familial cases likely had the USH2A mutation, with no second genetic locus found in the Dutch population.
- Significant variability in visual acuity was noted among patients, especially as age increased, with specific retinal findings categorized into two types; prevalence of type A findings rose significantly with age.
Article Abstract
Thirty-seven patients, comprising 24 familial cases and 13 isolated patients with Usher syndrome type II (USH2), underwent ophthalmologic examination. Based on the degree of hearing loss, normal vestibular function, and gene-linkage analysis, familial cases were assumed to have USH2A. An analysis of genetic heterogeneity failed to reveal the presence of a second locus in the Dutch population. Although the patients appear to belong to a genetically homogeneous group, remarkable ophthalmologic variability was found. Corrected visual acuity decreased with age and remarkable differences in visual acuity were found within one family. Fundoscopic findings were classified as type A if attenuated vessels and bone corpuscles in all quadrants were found or as type B if findings other than these were found. The prevalence of type A significantly increased with age.
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| http://dx.doi.org/10.3109/13816819509057856 | DOI Listing |
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