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


METHODS
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.
Bischoff
Anne M L C
AM
Department of Otorhinolaryngology--Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl
Pauw
Robert J
RJ
Huygen
Patrick L M
PL
Aandekerk
Albert L
AL
Kremer
Hannie
H
Cremers
Cor W R J
CW
Cruysberg
Johannes R M
JR
D000328:Adult; D015834:Cochlear Diseases / Q000235:genetics; D003315:Cornea / Q000473:pathology; D003316:Corneal Diseases / Q000175:diagnosis / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005190:Family; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D011446:Prospective Studies; D011506:Proteins / Q000235:genetics*; D015837:Vestibular Diseases / Q000235:genetics; D014792:Visual Acuity
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins