Twenty years of audiology in a patient with Norrie disease.
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.
Halpin
Chris
C
Department of Audiology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, United States. cfhalpin@meei.harvard.edu
Sims
Katherine
K
D000328:Adult; D001299:Audiometry; D001309:Auditory Threshold; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D006310:Hearing Aids; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010290:Parents / Q000523:psychology; D013069:Speech Reception Threshold Test; D055815:Young Adult
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins