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Auditory and optic neuropathy in Kjer's disease: case report

Published online by Cambridge University Press:  06 October 2011

S C Haaksma-Schaafsma ,
P van Dijk  and
F G Dikkers
S C Haaksma-Schaafsma*
Affiliation:
Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, University of Groningen, The Netherlands
P van Dijk
Affiliation:
Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, University of Groningen, The Netherlands
F G Dikkers
Affiliation:
Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, University of Groningen, The Netherlands
*
Address for correspondence: Mrs S C Haaksma-Schaafsma, Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands Fax: +31 503611698 E-mail: [email protected]
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Abstract

Objective:

Description of a female patient with diagnosed Kjer's disease and sensorineural hearing loss, who specifically complained of a progressive inability to understand speech in noisy situations.

Design:

Case report.

Subject:

A 30-year-old, Caucasian woman with Kjer's disease.

Results:

Audiological assessment showed low-frequency sensorineural hearing loss and a disproportionate deterioration in speech discrimination. This inconsistency gave rise to suspicion of possible aggravation. Follow-up testing showed that brainstem responses were absent, while clear otoacoustic emissions and cochlear microphonics were present. Hearing aids were fitted but no improvement was shown.

Conclusion:

This case shows a combination of auditory neuropathy and Kjer's optic neuropathy. It also illustrates that the combination of unexplained hearing loss and apparently inconsistent audiometric outcomes may be associated with auditory neuropathy. Such unexpected hearing evaluation outcomes may be due to other neurological conditions, such as Kjer's disease.

Keywords

Optic AtrophyAuditory NeuropathyAuditory Brainstem ResponseSensorineural Hearing LossOtoacoustic EmissionsCochlear Microphonic Potentials
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 126 , Issue 3 , March 2012 , pp. 309 - 312
Copyright
Copyright © JLO (1984) Limited 2011

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References

1Votruba, M, Fitzke, FW, Holder, GE, Carter, A, Bhattacharya, SS, Moore, AT. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 1998;116:351–8Google Scholar
2Kjer, P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Suppl 1959;37:46–87Google Scholar
3Jaeger, W. Hereditary optic atrophy with dominant transmission; with special reference to the associated color-sense disorder. Graefes Arch Clin Exp Ophthalmol 1954;155:457–484Google Scholar
4Hoyt, CS. Autosomal dominant optic atrophy. A spectrum of disability. Ophthalmology 1980;87:245–51CrossRefGoogle ScholarPubMed
5Kjer, B, Eiberg, H, Kjer, P, Rosenberg, T. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand 1996;74:3–7Google Scholar
6Bette, S, Zimmermann, U, Wissinger, B, Knipper, M. OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear. Histochem Cell Biol 2007;128:421–30CrossRefGoogle ScholarPubMed
7Delettre, C, Lenaers, G, Pelloquin, L, Belenguer, P, Hamel, CP. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 2002;75:97–107CrossRefGoogle ScholarPubMed
8Lyle, W, ed. Genetic Risks. Waterloo, Ontario: University of Waterloo Press, 1990Google Scholar
9Berlin, CI, Hood, LJ, Morlet, T, Wilensky, D, Li, L, Mattingly, KR et al. Multi-site diagnosis and management of 260 patients with auditory neuropathy/dys-synchrony (auditory neuropathy spectrum disorder). Int J Audiol 2010;49:30–43Google Scholar
10Huang, T, Santarelli, R, Starr, A. Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals. Brain Res 2009;1300:97–104Google Scholar
11Konigsmark, BW, Knox, DL, Hussels, IE, Moses, H. Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family. Arch Ophthalmol 1974;91:99–103Google Scholar
12Delettre-Cribaillet, C, Hamel, CP, Lenaers, G. Optic atrophy type 1. In: Pagon, RA, Bird, TC, Dolan, CR, Stephens, K, eds. Gene Reviews. Seattle: University of Washington, 1993Google Scholar
13Amati-Bonneau, P, Guichet, A, Olichon, A, Chevrollier, A, Viala, F, Miot, S et al. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 2005;58:958–63CrossRefGoogle ScholarPubMed
14Amati-Bonneau, P, Milea, D, Bonneau, D, Chevrollier, A, Ferre, M, Guillet, V et al. OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 2009;41:1855–65Google Scholar
15Amati-Bonneau, P, Odent, S, Derrien, C, Pasquier, L, Malthiery, Y, Reynier, P et al. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 2003;136:1170–1Google Scholar
16Auditory neuropathy spectrum disorder (ANSD) guidelines. Download at http://www.childrenscolorado.org/conditions/speech/danielscenter/ANSD-Guidelines.aspx (date af viewing Sept 5- 2011)Google Scholar
17Berlin, CI, Morlet, T, Hood, LJ. Auditory neuropathy/dyssynchrony: its diagnosis and management. Pediatr Clin North Am 2003;50:331–40CrossRefGoogle ScholarPubMed
18Starr, A, Picton, TW, Sininger, Y, Hood, LJ, Berlin, CI. Auditory neuropathy. Brain 1996;119:741–53Google Scholar
19Kraus, N. Auditory neuropathy: an historical and current perspective. In: Sininger, Y, Starr, A, eds. Auditory Neuropathy: a New Perspective on Hearing Disorders. San Diego: Singular, 2001;1–14Google Scholar
20Starr, A, Sininger, YS, Pratt, H. The varieties of auditory neuropathy. J Basic Clin Physiol Pharmacol 2000;11:215–30Google Scholar
21Zeng, FG, Oba, S, Garde, S, Sininger, Y, Starr, A. Temporal and speech processing deficits in auditory neuropathy. Neuroreport 1999;10:3429–35CrossRefGoogle ScholarPubMed
22Bosman, AJ, Smoorenburg, GF. Intelligibility of Dutch CVC syllables and sentences for listeners with normal hearing and with three types of hearing impairment. Audiology 1995;34:260–84Google Scholar
23Plomp, R, Mimpen, AM. Improving the reliability of testing the speech reception threshold for sentences. Audiology 1979;18:43–52CrossRefGoogle ScholarPubMed
24Berlin, CI, Bordelon, J, St John, P, Wilensky, D, Hurley, A, Kluka, E et al. Reversing click polarity may uncover auditory neuropathy in infants. Ear Hear 1998;19:37–47CrossRefGoogle ScholarPubMed
25Liden, G. The scope and application of current audiometric tests. J Laryngol Otol 1969;83:507–20CrossRefGoogle ScholarPubMed
26Jerger, J. Clinical experience with impedance audiometry. Arch Otolaryngol 1970;92:311–24Google Scholar
27Kemp, DT. Otoacoustic emissions, their origin in cochlear function, and use. Br Med Bull 2002;63:223–41Google Scholar
28Delettre, C, Lenaers, G, Griffoin, JM, Gigarel, N, Lorenzo, C, Belenguer, P et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000;26:207–10Google Scholar
29Alexander, C, Votruba, M, Pesch, UE, Thiselton, DL, Mayer, S, Moore, A et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000;26:211–15CrossRefGoogle ScholarPubMed
30Zeviani, M. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. Brain 2008;131:314–17Google Scholar
31Matsunaga, T. Trends in genetic research on auditory neuropathy. In: Kaga, K, Starr, A, eds. Neuropathies of the Auditory and Vestibular Eight Cranial Nerves. Tokyo: Springer, 2009;43–50CrossRefGoogle Scholar
32Manchaiah, VK, Zhao, F, Danesh, AA, Duprey, R. The genetic basis of auditory neuropathy spectrum disorder (ANSD). Int J Pediatr Otorhinolaryngol 2011;75:151–8Google Scholar