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  • Title: Usher syndrome in Puerto Rico: a clinical and genetic study.
    Author: Colón-Casasnovas JE, Izquierdo NJ, Millán JM.
    Journal: Bol Asoc Med P R; 2010; 102(4):54-8. PubMed ID: 21766549.
    Abstract:
    PURPOSE: To evaluate patients with the Usher syn drome in Puerto Rico. METHODS: Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. RESULTS: All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M. CONCLUSIONS: Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.
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