Chris Halpin1, Katherine Sims. 1. Department of Audiology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, United States. cfhalpin@meei.harvard.edu
Abstract
OBJECTIVE: To describe disease progression and treatment outcomes over a 20-year period (ages 5-25) in a young man with Norrie disease (occuloacousticocerebral dysplasia), ND; OMIM #310600. Affected individuals are born blind and develop progressive sensory loss with onset in adolescence. This disease is X-linked and has been associated with mutations of the NDP gene (Xp11.4). METHODS: The patient was followed using repeated audiograms, as well as reports of educational progress and hearing aid use. The specific mutation was found by molecular analysis. RESULTS: The patient demonstrated progressive sensory loss with good preservation of word recognition. The loss was initially high frequency and asymmetric in adolescence and became more severe, more symmetric and affected practically all frequencies by the end of childhood. Educational progress was affected by the cognitive effects of the syndrome, and hearing aid use was very effective. CONCLUSIONS: A bilateral progressive sensory loss with good preservation of word recognition was documented in detail. The residual word recognition supported good use of hearing aids in this case.
OBJECTIVE: To describe disease progression and treatment outcomes over a 20-year period (ages 5-25) in a young man with Norrie disease (occuloacousticocerebral dysplasia), ND; OMIM #310600. Affected individuals are born blind and develop progressive sensory loss with onset in adolescence. This disease is X-linked and has been associated with mutations of the NDP gene (Xp11.4). METHODS: The patient was followed using repeated audiograms, as well as reports of educational progress and hearing aid use. The specific mutation was found by molecular analysis. RESULTS: The patient demonstrated progressive sensory loss with good preservation of word recognition. The loss was initially high frequency and asymmetric in adolescence and became more severe, more symmetric and affected practically all frequencies by the end of childhood. Educational progress was affected by the cognitive effects of the syndrome, and hearing aid use was very effective. CONCLUSIONS: A bilateral progressive sensory loss with good preservation of word recognition was documented in detail. The residual word recognition supported good use of hearing aids in this case.
Authors: Yushi Hayashi; Hao Chiang; ChunJie Tian; Artur A Indzhykulian; Albert S B Edge Journal: Proc Natl Acad Sci U S A Date: 2021-09-28 Impact factor: 11.205
Authors: Dale Bryant; Valda Pauzuolyte; Neil J Ingham; Aara Patel; Waheeda Pagarkar; Lucy A Anderson; Katie E Smith; Dale A Moulding; Yeh C Leong; Daniyal J Jafree; David A Long; Amina Al-Yassin; Karen P Steel; Daniel J Jagger; Andrew Forge; Wolfgang Berger; Jane C Sowden; Maria Bitner-Glindzicz Journal: JCI Insight Date: 2022-02-08