Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet? 2007

Anthony J Aldave, and Baris Sonmez
Cornea Service, Jules Stein Eye Institute, University of California-Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA. aldave@sei.ucla.edu

The identification of the genetic basis of approximately half of the corneal dystrophies in the past decade has resulted in significant advances in our understanding of the genetic control of corneal clarity and has provided clinicians with a definitive means to confirm or refute presumptive clinical diagnoses. This article serves as a guide to understanding the genetic basis of the corneal dystrophies and provides a revised anatomically based classification system that is intended for the clinician, who must possess a working knowledge of the molecular genetic basis of the corneal dystrophies to accurately diagnose, counsel, and manage the disease in affected patients.

UI MeSH Term Description Entries
D008967 Molecular Biology A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules. Biochemical Genetics,Biology, Molecular,Genetics, Biochemical,Genetics, Molecular,Molecular Genetics,Biochemical Genetic,Genetic, Biochemical,Genetic, Molecular,Molecular Genetic
D003317 Corneal Dystrophies, Hereditary Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. Corneal Dystrophies,Granular Dystrophy, Corneal,Groenouw's Dystrophies,Macular Dystrophy, Corneal,Stromal Dystrophies, Corneal,Corneal Dystrophy,Corneal Dystrophy, Hereditary,Corneal Granular Dystrophies,Corneal Granular Dystrophy,Corneal Macular Dystrophies,Corneal Macular Dystrophy,Corneal Stromal Dystrophies,Corneal Stromal Dystrophy,Dystrophy, Corneal,Dystrophy, Corneal Granular,Dystrophy, Corneal Macular,Dystrophy, Corneal Stromal,Dystrophy, Hereditary Corneal,Groenouw Dystrophies,Groenouws Dystrophies,Hereditary Corneal Dystrophies,Hereditary Corneal Dystrophy,Stromal Dystrophy, Corneal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

Anthony J Aldave, and Baris Sonmez
June 2011, Current opinion in genetics & development,
Anthony J Aldave, and Baris Sonmez
March 2012, Clinical cancer research : an official journal of the American Association for Cancer Research,
Anthony J Aldave, and Baris Sonmez
April 2009, The New England journal of medicine,
Anthony J Aldave, and Baris Sonmez
January 2021, Epilepsy currents,
Anthony J Aldave, and Baris Sonmez
April 2016, The Journal of thoracic and cardiovascular surgery,
Anthony J Aldave, and Baris Sonmez
December 2009, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association,
Anthony J Aldave, and Baris Sonmez
January 2012, Clinical cancer research : an official journal of the American Association for Cancer Research,
Anthony J Aldave, and Baris Sonmez
July 2009, Australian nursing journal (July 1993),
Anthony J Aldave, and Baris Sonmez
August 1993, Health facilities management,
Anthony J Aldave, and Baris Sonmez
July 2013, Delaware medical journal,
Copied contents to your clipboard!