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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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OPHTHALMIC GENETICS UPDATE
Year : 2011  |  Volume : 18  |  Issue : 1  |  Page : 24-29

Genetic diagnostic methods for inherited eye diseases


Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, USA

Correspondence Address:
Elias I Traboulsi
i32 9500 Euclid Avenue, Cleveland, OH 44195
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-9233.75881

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Accurate molecular diagnosis of genetic eye diseases has proven to be of great importance because of the prognostic and therapeutic value of an accurate ascertainment of the underlying genetic mutation. Efforts continue in diagnostic laboratories to develop strategies that allow the discovery of responsible gene/mutations in the individual patient using the least number of assays and economizing on the expenses and time involved in the process. Once the ophthalmologist has made the best possible clinical diagnosis, blood samples are obtained for genetic testing. In this paper we will review the basic laboratory methods utilized to identify the chromosomal or mutational etiology of genetic diseases that affect the eye.


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