Delivered by Dr. Claes Möller at the International Symposium on Usher Syndrome.

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Abstract:

In order to make early, good and reliable diagnosis and find possible geno-phenotype correlations, state of the art clinic and genetic tests have to be applied. Diagnosis can in most cases be made as early as in the first year of life. The advantages of correct early genetic and clinical diagnosis are manifold, giving opportunities to give a prognosis and correct habilitation. This presentation is based on some 350 subjects with US. US type 1 (150), type 2 (170), type 3 (30). The majority of these subjects have been genetically confirmed. The hearing loss/deafness is first recognized by universal newborn screening, to be confirmed around 1 month of age. Audiological geno/phenotypes will be described with examples of possible mutation specific differences. The balance organ and the vestibular function can be determined at age 1-2 months. A bilateral vestibular areflexia together with a profound deafness is indicative for US type I with few exceptions. Visual examination has to be electrophysiological by the use of electroretinography (ERG). Possible visual geno/phenotype differences will be demonstrated.