| Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation. | |
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MedLine Citation:
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PMID: 21417677 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Purpose: To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years. Background: Oculo-auricular syndrome (MIM: 612109) is a rare developmental condition affecting the eye and external ear that results from a mutation in the HMX1 gene. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas and rod-cone dystrophy. Methods: Retrospective chart review of an affected boy followed over a period of 12 years who had serial complete ophthalmologic examinations, fundus photographs, Goldmann perimetry and full-field electroretinograms (ERG). Results: Initial ERG tracings revealed generalized rod more than cone dysfunction. Thereafter, a rapid deterioration in rod and cone function was detected on follow up ERGs. Conclusion: The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy. Visual prognosis is guarded considering the progressive nature of the retinal dystrophy in early infancy. |
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Authors:
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V Vaclavik; D F Schorderet; F-X Borruat; F L Munier |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-18 |
Journal Detail:
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Title: Ophthalmic genetics Volume: - ISSN: 1744-5094 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Jules-Gonin Eye Hospital, Lausanne, Switzerland. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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