Document Detail


Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.
MedLine Citation:
PMID:  11754903     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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."
Authors:
E Kurt; A Günen; Y Sadikoğlu; F Oztürk; S Tarhan; R A Sari; T Fistik; Z Ari
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Japanese journal of ophthalmology     Volume:  45     ISSN:  0021-5155     ISO Abbreviation:  Jpn. J. Ophthalmol.     Publication Date:    2001 Nov-Dec
Date Detail:
Created Date:  2001-12-28     Completed Date:  2002-03-07     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0044652     Medline TA:  Jpn J Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  612-7     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, School of Medicine, University of Celal Bayar, Manisa, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Corneal Dystrophies, Hereditary / genetics*,  pathology
Deafness / genetics*,  pathology
Female
Hearing Tests
Humans
Karyotyping
Male
Middle Aged
Myopia / genetics*,  pathology
Pedigree
Syndrome
Vision Tests

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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