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The impact of genetics on the clinical management of patients with monogenic corneal diseases
Author(s) -
Tuft S.J.,
Evans C.,
Davidson A.,
Hardcastle A.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0261
Subject(s) - corneal dystrophy , medicine , disease , referral , presentation (obstetrics) , eye care , disease management , ophthalmology , cornea , optometry , pathology , family medicine , surgery , parkinson's disease
Summary Over the last decade there has been a major reassessment of the classification of inherited corneal disease. In this presentation I discuss our program to genotype all patients attending our tertiary referral center who have suspected monogenic corneal disease. This has enabled us to distinguish the phenotypes of several closely related dystrophies as well as identify a small number of patients who have previously been misclassified. Some patients with important systemic associations have been identified and referred for further investigation and management. Finally, patients without changes in the genes commonly associated with corneal dystrophy have been selected for further evaluation. The impact of this for clinical care will be discussed.