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Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak\/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590319","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:15:22Z","timestamp":1118513722000},"page":"375-379","source":"Crossref","is-referenced-by-count":9,"title":["Clinical findings in obligate carriers of type I Usher syndrome"],"prefix":"10.1002","volume":"59","author":[{"given":"M.","family":"Wagenaar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"ter Rahe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"van Aarem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Huygen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Admiraal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Bleeker\u2010Wagemakers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Pinckers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Kimberling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(83)90147-9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273647"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1988.210"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1542\/peds.62.4.578","article-title":"Usher syndrome in four hard\u2010of\u2010hearing siblings","volume":"62","author":"Davenport SLH","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00153876"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(58)90062-X"},{"key":"e_1_2_1_8_1","first-page":"5","article-title":"Retinitis pigmentosa combined with congenital deafness; with vestibulo\u2010cerebellar ataxia and mental abnormality in a proportion of cases. 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