Genetic eye diseases

What is IMO’s position on ocular genetics?

IMO believes that it is essential to take genetic factors into account when considering eye diseases and ensure that the latest scientific advances are fully exploited for the benefit of the patient, in order to enhance diagnosis, prognosis and treatment of inherited visual disorders. In recent years, IMO has shown a firm commitment to genetic research by:

  • Studying the molecular causes of eye diseases from a genetic perspective to improve knowledge, provide patients with comprehensive diagnosis, improve prognosis and identify potential therapeutic targets.
  • Developing new genetic methodologies based on automated methods to enable accurate and routine diagnosis of a number of diseases that have highly diverse genetic causes and are difficult to identify, such as retinal dystrophy, glaucoma and corneal dystrophy.
  • Actively investigating the molecular causes of genetic vision disorders to improve knowledge about their development and to offer the patient a reliable prognosis, as well as contributing to the advancement of new therapeutic agents.
  • Carrying out continuous monitoring of gene and cell therapies, currently in the clinical research phase, particularly for retinal dystrophies, in order to make appropriate treatment available to patients as soon as possible.

What are genetic eye diseases?

Genes play a highly significant role in eye diseases, some of which are highly prevalent in children and adults.

Over 60% of cases of childhood blindness are caused by genetic factors (congenital glaucoma, ocular malformations, atrophy of the optic nerve and retinitis pigmentosa). In adults, genetic factors can also be associated with serious eye diseases, including glaucoma and macular degeneration.


DNA sequence

 

How are genetic diseases inherited?

Genes are units of information transmitted from parents to children. In some cases, the parents are healthy, but their children are affected. Many hereditary eye diseases do not appear until adulthood, often when the carrier has already had children. In hereditary diseases, genetic diagnosis plays a key role, as it enables carriers of the disease to be identified.

What are genetic predisposition factors?

Sometimes, it is not the disease itself that is directly transmitted, but a genetic predisposition to develop it. This is the case for a group of very common eye disorders, such as macular degeneration, strabismus and some forms of glaucoma, myopia and astigmatism. This predisposition factor explains how some diseases, e.g. diabetes, often affect several members of the same family. Some of these risk factors are well known, and this knowledge plays a key role in disease prevention. La identificación de nuevos factores genéticos que incrementan el riesgo de padecer alteraciones de la visión es uno de los campos más activos de la genética actual.

What are the benefits of genetic diagnosis for the patient?

Genetic diagnosis supports and confirms the clinical diagnosis. This is very important in some vision disorders, because overlapping symptoms are very difficult to diagnose. This is the case, for example, with retinal dystrophies. Correct diagnosis is vitally important in order to specify the prognosis and avoid confusion and inappropriate therapies. IMO has made a firm commitment to ocular genetics, with its ophthalmologists and geneticists working together on a daily basis and in a coordinated and integrated manner to find clear solutions.

What are the benefits for the patient’s family?

Genetic diagnosis is the step prior to genetic counselling. IMO is the first centre in Spain to offer patients comprehensive clinical/genetic diagnosis and genetic counselling to families suffering from hereditary eye diseases. Once the genetic causes of an eye disease have been determined, the family members carrying the disease, who may not have any symptoms, can be analysed and identified. With this information, it is possible to provide genetic counselling to patients and their family members. The genetic information is also necessary to identify candidates for the latest cell and gene therapies.

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