Some eye diseases are due to hereditary genetic changes. The onset of symptoms such as blurred vision, difficulty to adapt to light changes or pain and discomfort in the eye, may indicate that you are facing an ophthalmological pathology that may be hereditary.

Genetic studies can help taking care of your eye’s health. The information they provide is decisive for taking preventive measures, achieving early diagnoses and providing specific and effective treatments.

Pathologies such as Leber congenital amaurosis (LCA), early-onset pigment retinosis or age-dependent macular dystrophy, stand out for their severity, and are the main causes of blindness in infants, children and adults, respectively.

Genetic diagnosis in eye disorders offers the opportunity to access novel therapies such as gene therapy. Very promising therapies that can slow down the progression of the disease and even prevent more serious manifestations such as complete vision loss.

Types of genetic tests in ophthalmology


Studies of a few genes can help to diagnose some eye conditions such as type 1 eye albinism or Leber hereditary optic neuropathy (LHON). The latter is a relatively common mitochondrial disease that affects the optic nerve and causes sudden vision loss in young adults.



Simultaneous study of more than 350 genes associated with eye diseases allows the quick and effective identification of the pathology, and anticipation to the development of blindness suffered by many patients. With these panels, common diseases such as retinosis pigmentosa, macular dystrophy, cataracts or glaucoma and rare syndromes with eye disorders such as Usher’s, Stickler’s or Bardet-Biedl syndrome, can be detected from.


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