title: Progressive cone dystrophy and sensorineural hearing loss.
abstract: A 39-year old man presented 13 years ago with a history of progressive loss of vision and photophobia. A full ophthalmological and ENT work-up during several years of follow-up, including psychophysical as well as electrophysiological tests, revealed a progressive cone dystrophy in combination with sensorineural hearing loss. His younger sister presented with very similar features and underwent the same work-up. A novel syndrome of progressive cone dystrophy and sensorineural hearing loss is described in both siblings. Both also suffered from non-ocular disease possibly related to ciliary dysfunction. The condition is likely to be inherited as an autosomal recessive trait.
authors.affiliation: Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
authors.forename: J A
authors.initials: JA
authors.lastname: Witters
authors.forename: J
authors.initials: J
authors.lastname: De Zaeytijd
authors.forename: M
authors.initials: M
authors.lastname: Leys
authors.forename: B P
authors.initials: BP
authors.lastname: Leroy
mesh_terms: D000328:Adult; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D020795:Photophobia / Q000235:genetics*; D017949:Retinal Cone Photoreceptor Cells; D012162:Retinal Degeneration / Q000235:genetics*; D012607:Scotoma / Q000235:genetics; D013577:Syndrome