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Genetic Testing for Retinal Dystrophies

Updated: Nov 5

Genetic Testing for Retinal Dystrophies | An Overview

Genetic testing for retinal dystrophies involves analyzing an individual’s DNA to identify specific gene mutations associated with these conditions. By pinpointing the faulty gene, an Eye Surgeon can confirm the diagnosis, assess disease severity, and determine inheritance patterns. This information may help qualify individuals for clinical trials or gene therapies.



Advantages of Genetic Testing

Genetic testing for Retinal Dystrophy gives the following advantages:


  1. Gene Therapy : Knowing the mutation we may have as a retinal dystrophy patient, will make us aware of eligibility towards clinical trials happening around the world.

  2. Inheritance: Knowing our mutation, gives us information on likely pattern of inheritance, or chances of transmission of disease to the next generation.

  3. Progression of the Retinal Dystrophy: While this may not be always true, getting to know which mutation is affecting the retina, will give us knowledge on likelihood of progression, by comparing with others who have had the same mutation.


In case you would like to schedule for genetic test for retinal dystrophies, contact us today.

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