title: A further observation of corneal dystrophy and perceptive deafness in two siblings.
abstract: We studied two siblings with the rare association of corneal dystrophy and perceptive deafness (Harboyan syndrome). To our knowledge, this is the third description of this hereditary disorder. The results of the clinical, genetic, audiometric, and ocular examination of the two siblings and the type of inheritance, which agree with the previous description of the syndrome, are reported. Various hereditary syndromes associated with corneal dystrophy are reviewed.
authors.affiliation: Istituto di Oftalmologia, Università degli Studi di Napoli Federico II, Italy. magli@ds.unina.it
authors.forename: A
authors.initials: A
authors.lastname: Magli
authors.forename: L
authors.initials: L
authors.lastname: Capasso
authors.forename: T
authors.initials: T
authors.lastname: Foà
authors.forename: V
authors.initials: V
authors.lastname: Maurino
authors.forename: V
authors.initials: V
authors.lastname: Ventruto
mesh_terms: D000328:Adult; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D003638:Deafness / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D006320:Hearing Tests; D006801:Humans; D008297:Male; D010375:Pedigree; D014792:Visual Acuity / Q000235:genetics / Q000502:physiology