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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.

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. 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."[1]


  1. Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome. Kurt, E., Günen, A., Sadikoğlu, Y., Oztürk, F., Tarhan, S., Sari, R.A., Fistik, T., Ari, Z. Jpn. J. Ophthalmol. (2001) [Pubmed]
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