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REVIEW ARTICLE
Year : 2012  |  Volume : 5  |  Issue : 3  |  Page : 144-149

Genetics for the ophthalmologist


1 Wills Eye Institute, Philadelphia, Pennsylvania, USA
2 Thomas Jefferson University, Philadelphia, Pennsylvania, USA

Correspondence Address:
Alex V Levin
Chief, Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, 840 Walnut St., Philadelphia, PA 19107-5109
USA
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Source of Support: Funded in part by The Foerderer Fund (AVL) and Alcon Ocular Genetics Fellowship (ASK), Conflict of Interest: None


DOI: 10.4103/0974-620X.106092

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The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails), nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.


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