Genetic testing and counselling are central to modern care for retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. They help clarify the specific diagnosis, inheritance pattern, and eligibility for emerging therapies.
Role of Genetic Testing
Next‑generation sequencing panels or whole‑exome tests analyse many retinal disease genes simultaneously.
- Identifying the causative variant confirms the diagnosis and distinguishes RP from other inherited retinal diseases.
- Results define the inheritance pattern (autosomal dominant, autosomal recessive, X‑linked, or mitochondrial).
- Genotype information is increasingly required for entry into clinical trials and gene‑specific treatments.
- Testing is usually offered alongside pre‑test and post‑test counselling to explain implications and limitations.
Genetic Counseling
Specialist counselling supports patients and families in understanding and acting on genetic information.
- Relatives can be offered predictive or confirmatory testing when appropriate.
- Discussions cover recurrence risks, family planning options, and psychological impact.
- Patients are signposted to support groups, registries, and research studies.
- Results are integrated with clinical findings to guide prognosis and long‑term monitoring.
