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Eye diseases

Stargardt disease

STARGARDT
A genetic disease that affects the macula or centre of the retina.
Personalised care: diagnosis, monitoring and visual rehabilitation.
Research into the application of future gene and cell therapies.

What is Stargardt disease?

Stargardt disease is an ophthalmological disease similar to age-related macular degeneration (AMD), but that is not linked to ageing but to genetic factors. In fact, it is also know as juvenile macular degeneration, as it causes the progressive deterioration of the macula or central part of the retina. It is in this area where the photoreceptor cells responsible for detailed vision and the perception of colours known as cones) are mostly concentrated and that start to die as a result of the disease.

Included in the group of hereditary retinal dystrophies, it is the most frequent of those affecting the macula, although it remains a rare or minority disease (present in 1 in every 10,000 people).

Stargardt disease often starts to show before the age of 20, normally in childhood or adolescence, and gradually progresses. The destruction of the photoreceptors in the macula leads to dark areas in the central part of the field of vision and a progressive loss of visual acuity, with repercussions on activities such as reading or studying- If you have this disease, you will often have difficulties in seeing the smaller details and in distinguishing similar colours, or in focusing in different lighting conditions.

The speed of progression and the final degree of damage vary from one patient to another, but certain visual acuity and good peripheral vision is normally preserved.

Stargardt disease is genetic. More specifically, it is transferred in most cases through an autosomal recessive inheritance pattern in which you might suffer from the symptoms if you inherit the mutation in the altered gene (known as ABCA4) from both parents. They are only carriers of the gene but do not have the disease.

If only one of your parents has the defective gene, you will also be a carrier and will not develop the symptoms (except on very few occasions), although you can transfer the mutation to your descendants.

In the IMO Grupo Miranza molecular biology lab –one of the cornerstones of our R&D+i Area–, researchers from the IMO Foundation are working on identifying new pathogenic variants of the ABCA4 gene. The aim is to have greater knowledge of Stargardt disease and other retinal dystrophies associated to this gene.

Stargardt disease has no cure at present, as the damaged photoreceptor cells cannot be recovered. However, different research is in progress to which we are contributing with our research projects:

  • Gene therapies to create a healthy copy of the gene involved and have it replace the defective gene, which would be recommended in early stages of the disease in order to slow it down and avoid more severe vision loss.
  • Cell therapies based on the implantation of healthy cells (without the mutation) into the retina to spread and replace the damaged tissue. This would recover any lost vision.
  • Technological devices such as retinal chips, which artificially replace the function of the photoreceptors so that blind patients can “see” bionically.

Until this progress becomes effective, the Miranza clinics offer personal, specialist care for Stargardt disease, with an expert clinical diagnosis and avant-garde genetic diagnosis service, ophthalmological monitoring and assistance from the Poor Vision Area in making the most of the remains of your eyesight and improving your everyday independence.