Retinitis pigmentosa

Definition/diagnostic criteria Retinitis pigmentosa is a heterogeneous group of inherited retinal disorders characterised by progressive peripheral vision loss, night blindness and eventual central vision loss.

Epidemiology Retinitis pigmentosa has an estimated prevalence of 1 in 3,000 to 1 in 4,000 in the UK.

Diagnosis
Clinical features: Patients typically present in adolescence or early adulthood, but onset can vary from childhood to the mid-40s. Initial symptoms often include nyctalopia (night blindness) and peripheral vision loss, leading to ‘tunnel vision’. As the condition progresses, there can be a loss of central vision. Symptom progression is typically slow but can vary between individuals.

Investigations: Diagnosis is primarily clinical, supported by specialist investigations. These include visual field testing, retinal photography, electroretinography (ERG) and Optical coherence tomography (OCT).

Genetic testing is increasingly used to confirm the diagnosis and for genetic counselling.

Treatment There is currently no cure for retinitis pigmentosa, but treatment focuses on managing symptoms using low-vision aids and slowing progression by using sunglasses and other methods to avoid exposure to too much light. Light may make the condition worse.

Regular monitoring and prompt treatment of associated conditions, such as cataracts and macular oedema, is recommended.

Prognosis The prognosis for patients with retinitis pigmentosa is variable and depends on the type of genetic mutation. Most patients will progress to legal blindness by the age of 40-50. There is currently no cure but research is taking place into advanced genetic therapies and supportive technologies

Further reading

Published: 31st July 2022 Updated: 16th February 2024

Report errors, or incorrect content by clicking here.

What is Pulse Reference?

Based on the best-selling book Symptom Sorter. Pulse Reference is designed to help GPs make sense of patient presentations. It analyses a multitude of symptoms commonly seen in primary care and for each presents differentials, distinguishing features, possible investigations and key points. It also provides guides on managing more than 350 conditions. The perspective is very much grass roots primary care, informed by the latest evidence and guidance.

Learn More

Disclaimer

Pulse Reference is based on the best-selling book Symptom Sorter. The experts behind Pulse Reference are Dr Keith Hopcroft who is the co-author of Symptom Sorter, a GP in Essex and Pulse’s editorial advisor and Dr Poppy Freeman, a GP in Camden and also a clinical advisor to Pulse. This website is for clinical guidance only and cannot give definitive diagnostic information. Practitioners should work within the limits of their individual professional practice, seek guidance when necessary and refer appropriately.