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Inhereted retinal disorders (IRD) are a group of retinal diseases of genetic origin, with variable ways of clinical presentation. They affect approximately 2.5 million people around the world and can either affect only eye health or be a part of sindroms affecting other organs or systems.
Retinitis pigmentosa is the most frequent one, with a world prevalence of approximately 1 in every 3,000 people. Macular dystrophies, such as Stargardt’s disease or Best’s are also among those on which people request more information about.
There are approximately 300 genes known to cause IRDs. Genes are portions of our chromosomes with specific functions.
As a general mechanism, in all inhereted dystrophies there is a mutation or change in a gene. Consequently, the wrong synthesis of a protein involved in the visual process is encoded, resulting in retinal dysfunction with variable visual impairment depending on its function.
Each of these diseases has a different biochemical cause and mechanism, but in all of them the final common response is the morphological and functional damage of retinal cells.
Depending on the type of retinal cell that is affected at the beginning, the percieved symptoms for each patient may vary. These are some of the most common:
In order to correctly diagnose them, ophthalmologists take into account the personal and familiar medical history, the clinical examination and tests such as electrorretinogram (ERG), autofluorescence, optic coherence tomography (OCT) or campimetry.
With this information, a genetic study must be requested in order to know more about the disease, inheritance patterns, and approved therapy possibilitis or in a clinical trial phase.
It is very important to have a comprehensive approach to the cases of these patients among professionals in ophthalmology, genetics, general medicine, pediatrics, visual rehabilitation and low vision. Sometimes the associated management of people specialized in nutrition or endocrinology with experience in metabolic genetic diseases is required.
Numerous clinical trials are currently underway with various lines of research to treat some of these diseases. There is also an approved gene therapy for inherited retinal disorders associated with the ERP65 gene mutation. The specialists of the Ocular Genetics Unit at ICR deal with the medical management of the different conditions with the aim of offering the patient a better quality of life. We offer a comprehensive service so that they can achieve an adequate schooling, labor insertion and daily life as comfortable as possible.
Eye diseases with a genetic basis are caused by alterations in genetic code that appear throughout life and cause vision problems to a greater or a lesser degree.
Diabetes is a chronic disease related with the endocrine system but that can result in disorders or complicactions in vision such as diabetic retinopathy.
Macular degenerations are retinal diseases of genetic origin that cause an early degeneration of the macula that affect adults, young people and children.
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