Ocular Genetics

In this section you can find a description of the genetic tests available in our clinic for the diagnosis of (corneal and retinal) ocular pathologies which can be executed through simple painless buccal swabs.

Genetic Tests for Age Linked Macular Degeneration

Some pathology can be of a multifactor type, i.e. it can be due to a series of genetic, environmental and behavioural factors. In the case of a multifactor pathology, such as, e.g. the age linked macular degeneration (AMD) both in the atrophic and in the exudative forms, it is very important to know whether a genetic predisposition is present or not, for the purpose of reducing wherever possible the risk deriving from factors that we can, conversely, control (e.g. avoid smoking, avoid exposing to sun rays without a protection for the eyes, follow a healthy balanced diet rich in foods containing antioxidants and exercise regularly physically.

Genetic Tests for Inherited Retinal Pathologies

Some retinal pathology can be of the hereditary type, i.e. determined by a genetic defect. As of today’s date more than 300 genes can be identified for more than 50 rare retinal pathologies, using a very simple painless test, which requires less than a minute and is executed through a simple buccal swap i.e. “the taking of a sample of saliva”.

One might question what is the usefulness in knowing that one is bearer of a defective gene, which apparently condemn us to become ill, but as a matter of fact there exists an advantage and it is significant.

We have always considered inherited retinal pathologies as being without possibility of treatment, but today we are assisting to the birth and development of new potentially very effective therapies, e.g. such  as the gene therapy is some cases already practicable and others in continuous evolution.

Diagnostic Genetic Tests for Predicting Corneal Dystrophies and Keratoconus

Why is it important to execute a genetic test for corneal dystrophies? The screening panel of the genetic test comprises the five principal corneal dystrophies (GCD1, GCD2, Lattice, Reis-Bucklers and Thiel Behnke) and the Keratoconus. These dystrophies evolve slowly over the years but can suffer a sudden acceleration following a trauma induced on the cornea by a refractive surgery with potentially devastating results and such as to require sometime a cornea transplant.

Book your genetic test

You can easily book, with no engagement, your genetic test. After you send your e-mail, you will be contacted by one of our experts which will explain to you in detail the procedure to be followed and, you can decide, together with him, when and if to make the test in our structure.


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