Document Detail

Unilateral isolated microphthalmia inherited as an autosomal recessive trait.
MedLine Citation:
PMID:  16352476     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To report a family with unilateral isolated microphthalmia showing an autosomal recessive pattern of inheritance. CASE REPORT: We report a family in which three out of four children, one male and monozygotic female twins, were born with unilateral isolated microphthalmia to healthy consanguineous parents. One twin additionally had a horseshoe kidney. Rare cases of familial isolated microphthalmia/anophthalmia have been previously described. This is the first report of a family with autosomal recessive isolated microphthalmia occurring unilaterally in all affected individuals. It remains unknown how this inherited genetic disease results in unilateral manifestation. CONCLUSION: Mirror imaging of this condition in the monozygotic twins may help elucidate the underlying mechanism. The constellation of features in this family may contribute to solve remaining questions of research into symmetry and asymmetry.
Monika Fleckenstein; Irene H Maumenee
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  26     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-12-14     Completed Date:  2006-02-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  163-8     Citation Subset:  IM    
The Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA.
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MeSH Terms
Abnormalities, Multiple / genetics,  pathology
Diseases in Twins / genetics*
Genes, Recessive
Infant, Newborn
Linkage (Genetics)
Microphthalmos / genetics*
Twins, Monozygotic / genetics*

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