Stargardt’s Disease, a rare eye disease for which there is no cure

The world commemorates Rare Disease Day on 28 February. Stargardt’s Disease is one, and like many others, it is incurable at present.

This genetic macular degeneration affects young people of under 20 years old and is hereditary. One in every 10,000 people suffer from it although they may not be aware of this until they reach old age.

Stargardt’s Disease
This is a genetic disease that develops when both parents are carriers of the affected gene. The symptoms begin to appear between 7 and 12 years old but tend to be confused with vision loss such as myopia or hyperopia.

It is characterised by progressive loss of visual acuity. The macula, the part of the retina responsible for central vision, is affected by this disease. Patients experience a loss of clear vision in the central part of the visual field, making it difficult for them to distinguish faces or read. With the passage of time, they lose vision in other parts of the eye but do not go blind, as side vision is not lost. Sometimes, when the disease has progressed, the ability to distinguish between colours may be affected.

The medical team of the Barcelona Macula Foundation: Research for Vision in Barcelona, under the medical guidance of Dr. Jordi Monés, the ophthalmologist and macula, retina and vitreous specialist, has spent years conducting research to combat this disease, in close collaboration with the Institut de la Màcula i de la Retina. Various studies on genetic and pharmacological therapies have been carried out but, even though much progress has been made, Stargardt’s Disease remains incurable.

Recommendations for living with this disease
As this is a genetic disease, genetic testing and early diagnosis are especially important in order to commence a treatment that prevents the progression of the disease as soon as possible. Because the gene involved is recessive, there may not be a family history of Stargardt’s Disease so parents may be carriers of the gene but without developing the disease.

Patients with this disease should avoid vitamin A supplements, it is advisable for them to wear glasses with ultraviolet protection and, as soon as the initial symptoms are detected, they need to see a specialist in order to improve their quality of life through the use of peripheral vision.

About the Barcelona Macula Foundation
The Foundation aims to conduct research that combats blindness, especially pathologies involving the macula and the retina for which there is still no cure. Atrophic or dry AMD, Stargardt’s Disease or pigmentary retinosis are three of the diseases targeted by the Foundation for its research. Networking is one of its hallmarks and it collaborates with national and international medical and research institutions. These include the University of California, Irvine, the Institute of Photonic Sciences (ICFO), the Barcelona Centre for Regenerative Medicine (CMRB), the University Miguel Hernández, CIBER-BBN, the Catalan Institute of Nanoscience and Nanotechnology and the Vall d’Hebrón University Hospital-Research Institute Foundation.