Ocular Genetics Unit

Pioneer unit in the study of the genetic code of families with hereditary eye diseases to help reach a diagnosis, estimate its prognosis and offer genetic counselling.

Many eye diseases have a genetic component and can therefore be inherited and transmitted through many generations of a family.

Medical genetics is an essential tool for understanding more and more diseases. Endeavours recently managed to decode the human genome and this is considered by many scientists to be the discovery of the century. 

Genetic studies allow us to know whether a patient carries mutations. A mutation is a change in the normal structure of our genes that can be inherited or re-emerge in an individual. 

A family study allows us to detect unknown cases of the disease or cases that have not caused symptoms. We can therefore start treatment early in order to slow down disease progression or even prevent its onset. We can also give a more accurate visual prognosis on comparing your type of mutation with other previously known mutations. Treatment can therefore be specific and personalised.

Furthermore, we can give genetic counselling to inform couples about the chances of conceiving a baby with the disease. 

We can diagnose eye diseases through a person's genetic code and treat each patient in a personalised manner using the most appropriate drugs or surgical technique for each case.

The Ocular Genetics Unit is led by Dr Elena Millà with the assistance of Dr Susana Duch.

What are its objectives?

  1. To study the Genetic map of families with glaucoma
  2. To study the Genetic map of hereditary diseases of the cornea, choroid, retina or optic nerve
  3. To provide Genetic Counselling so that couples can decide whether or not to have more children
  4. To research new mutations that are not yet known
Created: 02/05/2019 / Updated: 21/06/2024

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