TY - JOUR
T1 - Stable and progressive hearing loss in type 2A Usher's syndrome
AU - Van Aarem, Annelies
AU - Pinckers, Alfred J.L.G.
AU - Kimberling, William J.
AU - Huygen, Patrick L.M.
AU - Bleeker-Wagemakers, Elisabeth M.
AU - Cremers, Cor W.R.J.
PY - 1996/12
Y1 - 1996/12
N2 - Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch multi-affected families, all linked to chromosome 1q (USH2A locus). Serial audiograms, available in 13 patients, were used for a regression analysis of binaural pure tone average on age (follow-up, 9 to 32 years) to test for 'significant progression,' ie, a significant regression coefficient, here called the 'annual threshold increase' (ATI, expressed in decibels per year). A significant ATI (>1 dB/y) was observed in 3 patients. Analysis of variance of ATI demonstrated significant heterogeneity; heating loss was either stable or progressive. This implies a significant clinical heterogeneity. A similar analysis performed on our progressive USH2A cases and 'type III' cases previously reported by others (ATI of 1 to 5 dB/y), some of which were recently linked to chromosome 3q (USH3 locus), failed to show any significant heterogeneity in the progression of hearing loss.
AB - Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch multi-affected families, all linked to chromosome 1q (USH2A locus). Serial audiograms, available in 13 patients, were used for a regression analysis of binaural pure tone average on age (follow-up, 9 to 32 years) to test for 'significant progression,' ie, a significant regression coefficient, here called the 'annual threshold increase' (ATI, expressed in decibels per year). A significant ATI (>1 dB/y) was observed in 3 patients. Analysis of variance of ATI demonstrated significant heterogeneity; heating loss was either stable or progressive. This implies a significant clinical heterogeneity. A similar analysis performed on our progressive USH2A cases and 'type III' cases previously reported by others (ATI of 1 to 5 dB/y), some of which were recently linked to chromosome 3q (USH3 locus), failed to show any significant heterogeneity in the progression of hearing loss.
KW - deaf-blindness
KW - gene linkage
KW - genetic deafness
KW - progressive deafness
KW - retinitis pigmentosa
KW - sensorineural hearing loss
KW - type III Usher's syndrome
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U2 - 10.1177/000348949610501206
DO - 10.1177/000348949610501206
M3 - Article
C2 - 8973283
AN - SCOPUS:12644291217
SN - 0003-4894
VL - 105
SP - 962
EP - 967
JO - Annals of Otology, Rhinology and Laryngology
JF - Annals of Otology, Rhinology and Laryngology
IS - 12
ER -