Stargardt disease

Stargardt's disease is a very rare juvenile macular degeneration, which is almost exclusively inherited as an autosomal recessive trait. In some cases, however, has so far been no genetic cause can be demonstrated. There have been described so far involved four loci.

In the photoreceptor cells is under the influence of light rhodopsin (11- cis- retinal) in Sehgelb ( all-trans- retinal) converted, which is conjugated with phosphatidylethanolamine ( PE) and by a membrane - ATPase ( encoded by the ABCA4 gene) brought out of the photoreceptor cells will. Mutations in the ABCA4 gene lead to accumulation of toxic degradation products of Sehgelb in the photoreceptor cells, the most common cause of Stargardt's disease.

Striking are deposits in the retinal pigment epithelium associated with an increased autofluorescence and in some cases are visible funduscopic as patchy yellow discoloration of the retina, which is why the disease is flavimaculatus also known as fundus. The diagnosis is usually made ​​with the multifocal electroretinogram.

During puberty, the visual acuity deteriorated in the central visual field up to about 0.1, so that the reading ability may be lost in the course. It is also a over years or decades of stable visual acuity of 0.2 to 0.3. A complete blindness does not threaten, however. The disease is limited to the area of ​​sharp vision, while the field is intact. The formation of an out-of- Zentralskotoms eccentric fixation in patients with Stargardt's disease occurs in 3 stages: in addition to a central fixation can first watch a switch between central and situated outside the Zentralskotoms fixation before a permanent fixation shift occurs. This alternating fixation behavior may explain the symptoms of patients with reading and the difficulty of providing visual aids. Other symptoms include increased glare sensitivity, color vision defect, central scotoma.

So far, no causal therapy is available. Concerned, the use of magnifying optical and electronic visual aids make life easier.

The disease is named after Dr. Karl Stargardt, who has described it in 1909 while working at the Eye Clinic in Bonn.