About Retinitis Pigmentosa
Retinitis pigmentosa is a genetic retinal disease that progresses with the gradual loss of retinal cells. Its common name "night blindness" comes from its earliest and most prominent sign — difficulty seeing in the dark.
The disease usually progresses slowly, first affecting night vision and then peripheral (side) vision. Treatment approaches focus largely on follow-up, support and preserving vision; recent advances in gene therapy and retinal implants are promising.
What Is Retinitis Pigmentosa?
The retina is the nerve layer at the back of the eye that converts light into visual signals. It contains "rod" cells for low-light vision and "cone" cells for colour and sharp vision. In retinitis pigmentosa the rod cells are damaged first, which is why the first complaint is difficulty seeing at night and in dim light.
Over time the field of vision narrows from the periphery toward the centre, producing "tunnel vision". The course and speed vary from person to person depending on the genetic type. For assessment alongside other retinal conditions, see the retinal diseases page.
Symptoms
Symptoms usually begin gradually and progress over years:
- Night-vision difficulty: Marked loss of vision in dim light and darkness (night blindness).
- Visual-field constriction: A sense of tunnel vision as peripheral vision declines.
- Inability to adapt to the dark: Long delay in seeing when moving from light into darkness.
- Difficulty adapting to light: Discomfort and glare with changes in brightness.
- Serious vision loss later: Marked loss in advanced stages as central vision becomes involved.
Causes & Inheritance
The disease is genetic and can be inherited in different ways:
- Genetic mutations: Many gene changes that impair retinal cell function are involved.
- Varied inheritance: It may be autosomal dominant, autosomal recessive or X-linked.
- Family history: Similar complaints in the family are important for diagnosis and counselling.
- Syndromic forms: In some cases it occurs together with other findings such as hearing loss.
For these reasons, family history and genetic counselling are valuable both for diagnosis and for assessing relatives.
Diagnosis
Diagnosis relies on detailed assessment of retinal function and structure:
- Fundus examination: Characteristic pigment changes are detected in the retina.
- Visual-field test: The degree of peripheral constriction is measured.
- ERG (electroretinography): The electrical response of retinal cells is evaluated.
- OCT: The cross-sectional structure of the retinal layers is examined.
- Genetic testing: When appropriate, the mutation type is identified to plan counselling.
Treatment & Management
Preserving Vision
Regular follow-up and rehabilitation to preserve current vision and support quality of life.
Regular Monitoring
Visual-field and retinal follow-up track the course of the disease.
Rehabilitation
Magnifiers and special devices make the best use of remaining vision.
Related Problems
Added conditions such as cataract are treated appropriately.
Quality of Life Preserved
Counselling & Advances
Genetic counselling and assessment of emerging treatment options for suitable candidates.
Genetic Counselling
The inheritance type is identified and family members are informed.
Eligibility
Candidacy for gene therapy is assessed in certain gene types.
Advances
Stem-cell and retinal-implant research is followed closely.
Promising New Approaches
Do you have a family history?
A comprehensive assessment is arranged for early diagnosis, follow-up and genetic counselling.