American Journal of Ophthalmology
Volume 143, Issue 5 , Pages 847-852.e6 , May 2007

Vertical Corneal Striae in Families with Autosomal Dominant Hearing Loss: DFNA9/COCH

  • Anne M.L.C. Bischoff

      Affiliations

    • Department of Otorhinolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • Corresponding Author InformationInquiries to Anne M. L. C. Bischoff, Department of Otorhinolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P. O. Box 9101, 6500 HB Nijmegen, The Netherlands
    • ,
  • Robert J. Pauw

      Affiliations

    • Department of Otorhinolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • ,
  • Patrick L.M. Huygen

      Affiliations

    • Department of Otorhinolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • ,
  • Albert L. Aandekerk

      Affiliations

    • Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
    • ,
  • Hannie Kremer

      Affiliations

    • Department of Otorhinolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • ,
  • Cor W.R.J. Cremers

      Affiliations

    • Department of Otorhinolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • ,
  • Johannes R.M. Cruysberg

      Affiliations

    • Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

,Accepted 23 January 2007.

References 

  1. Verhagen WIM, Huygen PLM, Joosten EMG. Familial progressive vestibulocochlear dysfunction. Arch Neurol. 1988;45:766–768
  2. Verhagen WIM, Huygen PLM, Theunissen EJJM, Joosten EMG. Hereditary vestibulocochlear dysfunction and vascular disorders. J Neurol Sci. 1989;92:55–63
  3. Verhagen WIM, Huygen PLM. Familial progressive vestibulocochlear dysfunction. Arch Neurol. 1991;48:262
  4. Verhagen WIM, Huygen PLM, Bles W. A new autosomal dominant syndrome of idiopathic progressive vestibulo-cochlear dysfunction with middle-age onset. Acta Otolaryngol. 1992;112:899–906
  5. Verhagen WIM, Bom SJH, Huygen PLM, et al. Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9). Arch Neurol. 2000;57:1045–1047
  6. Verhagen WIM, Bom SJM, Fransen E, et al. Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family. Clin Otolaryngol Allied Sci. 2001;26:477–483
  7. De Kok YJM, Bom SJH, Brunt TM, et al. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum Mol Genet. 1999;8:361–366
  8. Bom SJH, Kemperman MH, De Kok YJM, et al. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9. Laryngoscope. 1999;109:1525–1530
  9. Bom SJH, Kemperman MH, Huygen PLM, et al. Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH. Ann Otol Rhinol Laryngol. 2003;112:280–286
  10. Kamarinos M, McGill J, Lynch M, Dahl H. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families (Hum Mutat 2001;17:351). Erratum in: Hum Mutat. 2001;18:547–548
  11. Verstreken M, Declau F, Wuyts FL, et al. Hereditary otovestibular dysfunction and Ménière’s disease in a large Belgian family is caused by a missense mutation in the COCH gene. Otol Neurotol. 2001;22:874–881
  12. Kemperman MH, Bom SJH, Lemaire FX, et al. DFNA9/COCH and its phenotype. In:  Cremers CWRJ,  Smith RJH editor. Genetic hearing impairment. 61:Adv Otorhinolaryngology Basel: Karger; 2002;p. 66–72Its clinical presentations.
  13. Kemperman MH, De Leenheer EMR, Huygen PLM, et al. Audiometric, vestibular and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol Neurotol. 2005;26:926–933
  14. Lemaire FX, Feenstra L, Huygen PLM, et al. Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH) (Longitudinal analyses in a Belgian family). Otol Neurotol. 2003;24:743–748
  15. Bischoff AMLC, Huygen PLM, Kemperman MH, et al. Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9) (An analysis in 74 mutation carriers). Otol Neurotol. 2005;26:918–925
  16. Robertson NG, Lu L, Heller S, et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet. 1998;20:299–303
  17. Fransen E, Verstreken M, Verhagen WIM, et al. High prevalence of symptoms of Meniere’s disease in three families with a mutation in the COCH gene. Hum Mol Genet. 1999;8:1425–1429
  18. Usami S, Takahashi K, Yuge I, et al. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleovestibular dysfunction, but not of Meniere’s disease. Eur J Hum Genet. 2003;11:744–748
  19. Nagy I, Horvath M, Trexler M, et al. A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss. J Med Genet. 2004;41:e9
  20. Street VA, Kallman JC, Robertson NG, et al. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. Am J Med Genet A. 2005;139:86–95
  21. Collin RWJ, Pauw RJ, Schoots J, et al. Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing disorder DFNA9. Am J Med Genet A. 2006;140A:1791–1794
  22. Liepinsh E, Trexler M, Kaikkonen A, et al. NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. EMBO J. 2001;20:5347–5353
  23. Robertson NG, Resendes BL, Lin JS, et al. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Hum Mol Genet. 2001;10:2493–2500
  24. Robertson NG, Cremers CWRJ, Huygen PLM, et al. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum Mol Genet. 2006;15:1071–1085
  25. Bischoff AMLC, Pennings RJE, Huygen PLM, et al. Cochleovestibular and ocular features in a Dutch DFNA11 family. Otol Neurotol. 2006;27:323–331
  26. Fransen E, Verstreken M, Bom SJH, et al. A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation. J Med Genet. 2001;38:61–65
  27. Bhattacharya SK, Rockwood EJ, Smith SD, et al. Proteomics reveal cochlin deposits associated with glaucomatous trabecular meshwork. J Biol Chem. 2005;280:6080–6084
  28. Bhattacharya SK, Annangudi SP, Salomon RG, et al. Cochlin deposits in the trabecular meshwork of the glaucomatous DBA/2J mouse. Exp Eye Res. 2005;80:741–744
  29. Pauw RJ, Collin RWJ, Huygen PLM, et al. Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiology & Neurotology. 2007;12:77–84
  30. Khetarpal U, Schuknecht HF, Gacek RR, Holmes LB. Autosomal dominant sensorineural hearing loss (Pedigrees, audiologic findings, and temporal bone findings in two kindreds). Arch Otolaryngol Head Neck Surg. 1991;117:1032–1042
  31. Khetarpal U. Autosomal dominant sensorineural hearing loss: further temporal bone findings. Arch Otolaryngol Head Neck Surg. 1993;119:106–108
  32. Merchant SN, Linthicum FH, Nadol JB. Histopathology of the inner ear in DFNA9. In:  Kitamura K,  Steel KP editor. Genetics in otorhinolaryngology. 56:Adv Otorhinolaryngology Basel: Karger; 2000;p. 212–217
  33. Khetarpal U. DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear. Laryngoscope. 2000;110:1379–1384
  34. Bhattacharya SK. Focus on molecules: cochlin. Exp Eye Res. 2006;82:355–356
  35. Bron AJ. Anterior corneal mosaic. Br J Ophthalmol. 1968;52:659–669
  36. Bron AJ, Tripathi RC. Anterior corneal mosaic (Further observations). Br J Ophthalmol. 1969;53:760–764
  37. Bron AJ, Tripathi RC. Anterior corneal mosaic. Br J Physiol Opt. 1970;25:8–13
  38. Bron AJ. Photography of corneal pattern. Arch Ophthalmol. 1968;79:119–120
  39. Bron AJ. The architecture of the corneal stroma. Br J Ophthalmol. 2001;85:379–381
  40. Norn MS. Schweitzer’s polygonal fluorescein pattern of the cornea (A clinical study and comparison with an applanation-prism-net–phenomenon). Acta Ophthalmol. 1968;46:700–711

 Supplemental Material available at AJO.com.

PII: S0002-9394(07)00107-9

doi: 10.1016/j.ajo.2007.01.037

American Journal of Ophthalmology
Volume 143, Issue 5 , Pages 847-852.e6 , May 2007

Article Tools

* Image Usage & Resolution