Vertical Corneal triae in Familie with Autoomal Dominant Hearing Lo: DFNA9/COCH Original Reearch Article

Purpoe Invetigation of a poible aociation between vertical corneal triae and mutation in the COCH gene, oberved in four DFNA9 familie with autoomal dominant hearing lo and vetibular dyfunction. Deign Propective cae erie. Method Ophthalmologic examination with photography of the cornea after intillation of fluorecein were performed in 98 family member with 61 mutation carrier of four DFNA9 familie at the Radboud Univerity Nijmegen Medical Centre. Familie 1 and 2 harbor the Pro51er mutation, and familie 3 and 4 harbor the Gly88Glu and the Gly87Trp mutation, repectively. tatitical analyi wa performed to find an aociation between the vertical corneal triae and the COCH mutation for each family and to tet whether the four familie were different in thi repect. Reult The vertical corneal triae were excluively viible after intillation of fluorecein. They caued minor problem, a dry eye ymptom, and were not preent in the general Dutch ophthalmologic population. The triae were preent from an age of 47 year in 32 individual, of whom 27 individual had a COCH mutation. tatitical analyi on the triae and the COCH mutation howed a ignificant aociation in familie 1, 2, and 3 (P = .0006), but not in family 4 (P = .63). Concluion Data analyi demontrated a ignificant aociation between vertical corneal triae and the Pro51er and Gly88Glu mutation in the COCH gene in DFNA9 familie 1, 2, and 3 with cochleovetibular dyfunction. Our finding ugget that the vertical corneal triae and cochleovetibular dyfunction may be caued by the ame COCH mutation.