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Presentation type	E-poster
Title	DFNA9-associated corneal epithelial dystrophy: a prospective case study

Purpose	COCH gene mutations in autosomal dominant deafness (DFNA9) have been associated with the presence of vertical corneal striae, often leading to dry eye symptoms, unstable refraction and decreased vision. In this study we aimed to further consolidate the existence of this peculiar corneal pattern in a DFNA9 population, and assess possible therapeutic options.
Methods	21 genetically confirmed subjects underwent a full ophthalmologic examination with slit lamp photography after instillation of fluorescein. Statistical analysis was performed to evaluate the association between the superficial corneal changes and the COCH mutation. Patients with persistent visual complaints after optimal spectacle or contact lens correction were fitted with a scleral lens.
Results	The vertical corneal striae were present bilaterally in 19 out of 21 individuals; they have not been described in the general ophthalmic population. In this group, 13 patients had typical symptoms of dry eye and tear film instability. Two patients were fitted with scleral lenses and demonstrated an improvement in visual acuity of two lines compared to best corrected visual acuity (BCVA).
Conclusion	We demonstrated and solidified the association between COCH mutations and a novel corneal epithelial dystrophy. We also showed that scleral lenses can be successfully used for visual acuity improvement, which is particularly relevant as DFNA9 patients will eventually develop severe hearing loss and balance disorders.
Conflict of interest	No

Authors 1

Last name	BALLET
Initials	B
Department	Antwerp University Hospital

Authors 2

Last name	VAN ROMPAEY
Initials	V
Department	Antwerp University Hospital

Authors 3

Last name	KOPPEN
Initials	C
Department	Antwerp University Hospital