Vertical Corneal Striae in Families with Autosomal Dominant Hearing Loss: DFNA9/COCH
Accepted 23 January 2007. published online 05 March 2007.
Purpose
Investigation of a possible association between vertical corneal striae and mutations in the COCH gene, observed in four DFNA9 families with autosomal dominant hearing loss and vestibular dysfunction.
Design
Prospective case series.
Methods
Ophthalmologic examinations with photography of the cornea after instillation of fluorescein were performed in 98 family members with 61 mutation carriers of four DFNA9 families at the Radboud University Nijmegen Medical Centre. Families 1 and 2 harbor the Pro51Ser mutation, and families 3 and 4 harbor the Gly88Glu and the Gly87Trp mutation, respectively. Statistical analysis was performed to find an association between the vertical corneal striae and the COCH mutation for each family and to test whether the four families were different in this respect.
Results
The vertical corneal striae were exclusively visible after instillation of fluorescein. They caused minor problems, as dry eye symptoms, and were not present in the general Dutch ophthalmologic population. The striae were present from an age of 47 years in 32 individuals, of whom 27 individuals had a COCH mutation. Statistical analysis on the striae and the COCH mutations showed a significant association in families 1, 2, and 3 (P = .0006), but not in family 4 (P = .63).
Conclusions
Data analysis demonstrated a significant association between vertical corneal striae and the Pro51Ser and Gly88Glu mutations in the COCH gene in DFNA9 families 1, 2, and 3 with cochleovestibular dysfunction. Our findings suggest that the vertical corneal striae and cochleovestibular dysfunction may be caused by the same COCH mutations.
aDepartment of Otorhinolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
bDepartment of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Inquiries 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
ABSTRACT