Document Detail


[Hereditary glaucoma associated with oculodentodigital dysplasia].
MedLine Citation:
PMID:  21893263     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CASE REPORT: A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35 mm Hg in OD and 40 mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and fifth finger syndactylyl in both hands. A bilateral trabeculectomy was performed with a good response.
DISCUSSION: ODDD is a rare autosomal dominant disease with heterogeneous phenotype manifestations. The most frequent cause of loss of visual acuity is the glaucoma, requiring long-term follow up with periodical control of the intraocular pressure (IOP).
Authors:
P Tejada; Y W Eduardo; E Gutiérrez; A Barceló; J Sánchez
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Publication Detail:
Type:  Case Reports; English Abstract; Journal Article     Date:  2011-07-14
Journal Detail:
Title:  Archivos de la Sociedad Española de Oftalmología     Volume:  86     ISSN:  1989-7286     ISO Abbreviation:  Arch Soc Esp Oftalmol     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-09-06     Completed Date:  2012-01-04     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  1304603     Medline TA:  Arch Soc Esp Oftalmol     Country:  Spain    
Other Details:
Languages:  spa     Pagination:  292-4     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.
Affiliation:
Servicio de Oftalmología, Hospital Universitario 12 de Octubre, Madrid, España.
Vernacular Title:
Glaucoma hereditario asociado a displasia oculodentodigital.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Corneal Dystrophies, Hereditary / genetics*
Female
Glaucoma / congenital*,  genetics,  surgery
Humans
Infant, Newborn
Male
Micrognathism / genetics
Nose / abnormalities
Nystagmus, Pathologic / congenital*,  genetics
Syndactyly / genetics*,  surgery
Syndrome
Trabeculectomy

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


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