Familial pathologic myopia, corneal dystrophy, and deafness: A new syndrome

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dc.contributor.authorKurt E.
dc.contributor.authorGünen A.
dc.contributor.authorSadkolu Y.
dc.contributor.authorÖztürk F.
dc.contributor.authorTarhan S.
dc.contributor.authorSar R.A.
dc.contributor.authorFstk T.
dc.contributor.authorAr Z.
dc.date.accessioned2024-07-22T08:25:23Z
dc.date.available2024-07-22T08:25:23Z
dc.date.issued2001
dc.description.abstractBackground: 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. Cases: Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations. Observations: 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." © 2001 Japanese Ophthalmological Society.
dc.identifier.DOI-ID10.1016/S0021-5155(01)00426-9
dc.identifier.issn00215155
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/20387
dc.language.isoEnglish
dc.subjectAdolescent
dc.subjectAdult
dc.subjectCorneal Dystrophies, Hereditary
dc.subjectDeafness
dc.subjectFemale
dc.subjectHearing Tests
dc.subjectHumans
dc.subjectKaryotyping
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMyopia
dc.subjectPedigree
dc.subjectSyndrome
dc.subjectVision Tests
dc.subjectadolescent
dc.subjectadult
dc.subjectarticle
dc.subjectaudiology
dc.subjectautosomal dominant disorder
dc.subjectbiochemistry
dc.subjectclinical article
dc.subjectclinical trial
dc.subjectcongenital cornea dystrophy
dc.subjectcontrolled clinical trial
dc.subjectcontrolled study
dc.subjectcornea stroma
dc.subjectdisease severity
dc.subjectfamilial disease
dc.subjectfemale
dc.subjectgenetic analysis
dc.subjecthearing impairment
dc.subjecthearing loss
dc.subjecthuman
dc.subjectinheritance
dc.subjectkaryotyping
dc.subjectmale
dc.subjectmyopia
dc.subjectophthalmology
dc.subjectoptic disk
dc.subjectotorhinolaryngology
dc.subjectpathology
dc.subjectpathophysiology
dc.subjectpedigree analysis
dc.subjectphysical examination
dc.subjectpriority journal
dc.subjectradiodiagnosis
dc.subjectserology
dc.subjectTurkey (republic)
dc.titleFamilial pathologic myopia, corneal dystrophy, and deafness: A new syndrome
dc.typeArticle

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