title: Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.
abstract: BACKGROUND
  Numerous syndromes with myopia and hearing loss have been described up to now. We present a family with pathologic myopia, corneal dystrophy, and deafness distinct from these syndromes.
  
  
  METHODS
  Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations.
  
  
  METHODS
  Ophthalmic examination indicated that all the cases had myopia, 7 of them had pathologic myopia, 1 had intermediate, and 2 had mild. Four of the patients with pathologic myopia had corneal dystrophy that was bilaterally manifest as white opacities in the posterior stroma near Descemet's membrane in an axial distribution; 1 of these 4 patients also had a tilted disc. Otolaryngologic examination revealed conductive hearing loss in 3 cases, mixed hearing loss in 2, and sensorineural hearing loss in 1. The results of karyotypic analyses of all cases were normal. The pedigree analysis showed the disease was inherited through successive generations as an autosomal dominant trait. The results of biochemical, serologic, and radiologic investigations were normal. The same pathophysiologic process in all cases seemed to account for the myopia, the corneal dystrophy and the deafness.
  
  
  CONCLUSIONS
  To our knowledge, this type of case has not been reported in the literature. Therefore, we named this syndrome "familial pathologic myopia, corneal dystrophy and deafness."
authors.affiliation: Department of Ophthalmology, School of Medicine, University of Celal Bayar, Manisa, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Kurt
authors.forename: A
authors.initials: A
authors.lastname: Günen
authors.forename: Y
authors.initials: Y
authors.lastname: Sadikoğlu
authors.forename: F
authors.initials: F
authors.lastname: Oztürk
authors.forename: S
authors.initials: S
authors.lastname: Tarhan
authors.forename: R A
authors.initials: RA
authors.lastname: Sari
authors.forename: T
authors.initials: T
authors.lastname: Fistik
authors.forename: Z
authors.initials: Z
authors.lastname: Ari
mesh_terms: D000293:Adolescent; D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D005260:Female; D006320:Hearing Tests; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome; D014787:Vision Tests