Hereditary retinal dystrophies

Among the diseases of the retina, there are several genetically determined, “hereditary” conditions. Hereditary retinal dystrophies are a group of diseases. They include RARE diseases of the retina of genetic origin, such as retinitis pigmentosa (RP), Leber’s congenital amaurosis (LCA), Stargardt’s macular dystrophy, Best’s macular dystrophy, achromatopsia, juvenile retinoschisis,…and many other diseases.

For an accurate and reliable ophthalmological diagnosis, it is often necessary to perform an ophthalmological imaging (OCT) or electrophysiological (ERG, VEP) examination. In addition to the examinations, a specialist with expertise in the field is also required to establish the correct diagnosis!

In addition to the "routine" ophthalmological examination, our center also offers the possibility of performing ophthalmological imaging examinations (OCT, autofluorescence) and electrophysiology examinations (ERG, VEP), as well as genetic counseling and sampling!

Hereditary retinal dystrophies are caused by a gene defect or mutation. Human DNA contains approximately 20,000 genes, which code for a protein. Gene defects and mutations can be asymptomatic, but they often cause diseases. Mutations in more than 400 different genes have been identified as the cause of hereditary retinal dystrophies. Some genes are disease-specific (one gene – one disease), while mutations in other genes can cause multiple diseases (one gene – several diseases). However, for example, retinitis pigmentosa involves a mutation in one of more than 100 genes (one disease – several genes). This is why both ophthalmological and genetic diagnosis are important!