Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.  

Oleh:

Bischoff, Anne M. L. C ; Pauw, Robert J. ; Huygen, Patrick L. M ; Aandekerk, Albert L. ; Kremer, Hannie ; Cremers, Cor W. R. J ; Cruysberg, Johannes R. M.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: American Journal of Ophthalmology (keterangan: ada di ClinicalKey) vol. 143 no. 05 (May 2007), page 847.

Ketersediaan

Perpustakaan FK Nomor Panggil: A12.K.2007.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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