When the eyes slowly darken: A holistic understanding of retinopathia pigmentosa in Refsum’s disease

When the eyes slowly darken: A holistic understanding of retinopathia pigmentosa in Refsum’s disease

Imagine your view of the world slowly narrowing – as if through an ever-shrinking keyhole. For people with retinopathy pigmentosa (RP), this is exactly the reality: a gradual, progressive reduction in vision that often begins at night and over the years also affects daytime vision. When this eye disease occurs in conjunction with Refsum’s disease, we are talking about a very rare but complex clinical picture – and about the opportunities to shape everyday life with a new perspective.

What is Refsum’s disease?

Refsum’s disease is a very rare, inherited metabolic disorder. It is one of the so-called peroxisomal diseases – this means that certain cell components (peroxisomes), which are supposed to break down harmful fatty acids, do not function properly. As a result, a fatty acid called phytanic acid accumulates in the body. This accumulation can affect various organs and tissues – including the nervous system, the heart and the eyes.

When phytanic acid hits the retina: retinopathia pigmentosa

Retinopathia pigmentosa is often one of the first symptoms of Refsum’s disease. The retina, a highly sensitive nerve tissue in the eye, suffers from exposure to phytanic acid. The light-sensitive cells – especially the rods, which are responsible for seeing in the dark – are gradually damaged. This initially manifests itself as night blindness, followed by the so-called tunnel vision phenomenon. Later, central vision can also become impaired.

Living holistically with Refsum’s disease and RP

As complex as the disease is, the support measures can be just as varied. A holistic approach means not just reducing people to their symptoms, but looking at them as a whole: Physically, mentally, socially and in everyday life.

1. diet as a key factor:
As phytanic acid is absorbed via animal products (e.g. milk, meat from ruminants and fish), a special diet plays a central role. A diet low in phytanic acid can help to positively influence the course of the disease. Cooperation with experienced nutrition experts is essential here.

2. reorganize your vision:
Living with RP means dealing with altered visual conditions. Visual training, the use of aids such as magnifying visual aids or electronic reading devices, and adapting the living space can enable new levels of independence.

3. strengthening the nervous system and mobility:
Physiotherapy, balance training and mobility aids support the ability to move, which can be impaired by Refsum’s disease. Occupational therapy can help to organize everyday activities safely.

4. psychosocial support:
Living with a rare disease often also means uncertainty, fear or isolation. Psychological support, exchanges with other affected people and access to social support services can provide emotional support.

5. medical care as a continuous path:
As Refsum’s disease can affect several organs, regular care by an interdisciplinary team of doctors is important – for example from neurology, ophthalmology, cardiology and metabolic medicine.

Conclusion

With the right support and a daily routine tailored to your individual needs, you can lead a fulfilling, active life. Even if the disease remains, there is still the opportunity to actively shape your own path – step by step, view by view.