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Genetics and Genomics

The Genetics of the Eye

Ophthalmogenetics

   
Ophthalmogenetics researches the genetics behind today’s most common eye diseases and establishes a base for the design of preventive therapeutic models.
Genetic factors play a role in many kinds of eye diseases, specially those that are the leading cause of blindness among infants, children and adults.
Up to 40% of patients with certain types of strabismus have a family history of the disease. Over the past 15 years, nearly 500 genes that contribute   to   inherited    eye   diseases    have    been

identified. This remarkable new genetic information highlights the effort that is being made in understanding the medical basis of human ophthalmic diseases. As a result, gene-based therapies are actively being pursued to ameliorate ophthalmic genetic diseases that were once considered untreatable. The ability to detect disease-causing mutations in many individuals with inherited ophthalmic diseases offers significant benefits for patients and their families. It is now possible to provide genetic testing for patients afflicted with ocular diseases by the careful screening of these genes.

Inherited eye diseases such as congenital cataracts & glaucoma, retinal degeneration, optic atrophy and eye malformations cause more than 60% of cases of blindness among infants.

 

Ophthalmogenetic Testing

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