Rare diseases: Early detection, essential

Today is Rare Disease Day, a commemoration that invites us to lend even greater support to those who suffer from this type of pathology. From the field of ophthalmology, we wish to install in people the need for early detection in order to treat such diseases and attempt to halt their progression.

Stargardt’s disease
Stargardt’s disease is a rare eye condition that affects one in every 10,000 people, although sufferers may not be aware of it until they reach old age.

It is hereditary, affecting young people of under 20 years old whose two parents are carriers of the affected gene. It causes degeneration of the macula, leading to a progressive loss of sight.

Patients experience a gradual loss of central vision, which makes it difficult for them to discern those they converse with, read or watch television. In a more advanced state, only side vision is maintained.

The medical team of the Institut de la Màcula which forms part of the prestigious Centre Mèdic Teknon, under the guidance of Dr. Jordi Monés, the ophthalmologist and macula, retina and vitreous specialist, and in close collaboration with the Barcelona Macula Foundation: Research for Vision, has spent years researching into a cure for this disease.

Early detection
Stargardt’s disease may be slowed through early detection and constant medical treatment. When the initial symptoms are detected, see a specialist to try to improve your quality of life.