Today, we talk about Retinitis Pigmentosa (RP)—a genetic eye disorder that causes gradual vision loss. It affects the retina, the part of the eye that senses light. Over time, vision gets worse, especially at night and in dim light.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families diagnose and manage RP. Early testing, protective measures, and new treatments can help slow vision loss.
What is Retinitis Pigmentosa?
RP is an inherited eye condition that damages the retina. The retina loses its ability to sense light properly, leading to vision loss.
💡 Over time, the retina may develop a black appearance, seen during an eye exam.
💡 Different genes can cause RP, and we cannot predict the gene based on symptoms alone.
Symptoms of Retinitis Pigmentosa
✔ Night Blindness – Difficulty seeing in dim light or at night.
✔ Tunnel Vision – Losing side (peripheral) vision gradually.
✔ Glare Sensitivity – Bright lights cause discomfort or blurry vision.
✔ Slow Adaptation to Darkness – Eyes take longer to adjust to low light.
✔ Color Vision Changes – Some people struggle to tell apart different colors.
✔ Total Vision Loss – In severe cases, blindness can occur.
💡 Symptoms usually start in childhood or teenage years and slowly get worse.
How Does RP Run in Families?
💡 RP is a genetic disorder, meaning it runs in families.
✔ Autosomal Dominant RP – One parent has RP, and there is a 50% chance of passing it to a child.
✔ Autosomal Recessive RP – Both parents are carriers, and there is a 25% chance of the child inheriting RP.
✔ X-Linked RP – Mostly affects males, and mothers can pass the faulty gene to their sons.
💡 Some cases occur randomly with no family history.
Dr. Roshan Daniel’s Experience with Retinitis Pigmentosa
✅ Many children come with night vision problems. Parents often notice their child struggles to see in dim light.
✅ Some children bump into objects, especially in the dark.
✅ Some families discover RP only after multiple relatives develop vision problems.
✅ There are many genes that cause RP. It is not possible to predict the gene just from symptoms.
✅ Gene therapy for the RPE65 gene is available in the UK, but no other gene therapy is available yet.
💡 Cost of Testing (as of February 2025):
✔ Eye Tests (ERG, OCT, Visual Field Test): ₹2,000 – ₹5,000
✔ Genetic Testing for RP Genes: ₹20,000 – ₹30,000, results in 14 working days
How is Retinitis Pigmentosa Diagnosed?
Doctors use different tests to confirm RP:
✔ Electroretinography (ERG) – Measures how the retina responds to light.
✔ Optical Coherence Tomography (OCT) – Takes detailed images of the retina.
✔ Visual Field Test – Checks for tunnel vision.
✔ Genetic Testing – Identifies the faulty gene and helps screen family members.
💡 If one family member has RP, other relatives should be tested too.
How is Retinitis Pigmentosa Managed?
There is no cure, but some treatments can slow down vision loss and help patients adapt.
🔹 Vitamin A Supplements – May slow disease progression (only under doctor supervision).
🔹 UV-Protective Sunglasses – Reduce damage from sunlight.
🔹 Low-Vision Aids – Special glasses and magnifiers improve daily life.
🔹 Gene Therapy (RPE65 Mutation Only) – Available in the UK but not for other RP genes.
🔹 Stem Cell & Retinal Implant Research – Future treatments are being explored.
💡 Early diagnosis helps plan for better management.
FAQs on Retinitis Pigmentosa
💡 What causes Retinitis Pigmentosa?
RP is caused by faulty genes that affect the retina’s ability to process light. Over time, this leads to vision loss.
💡 Can RP run in families?
Yes. RP can be passed down from parents, depending on the genetic type.
✔ Dominant RP – 50% chance if one parent has it.
✔ Recessive RP – 25% chance if both parents are carriers.
✔ X-Linked RP – Mainly affects boys, inherited from the mother.
💡 Can RP be diagnosed before symptoms appear?
Yes. Genetic testing and eye exams can confirm RP before vision loss starts.
✔ Early detection helps in planning lifestyle changes and protective measures.
💡 Can RP be diagnosed before birth?
Yes. If a parent has RP or if one child is already affected with RP, prenatal genetic testing (amniocentesis or CVS) can check if the baby has inherited it.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with RP live normal lives?
Yes! With early diagnosis, assistive devices, and lifestyle changes, many people manage RP well.
✔ Using low-vision aids helps with daily activities.
✔ A healthy diet and UV protection can slow vision loss.
✔ New research offers hope for future treatments.
💡 Dr. Roshan Daniel has helped many RP patients adapt to vision changes and improve their quality of life.
💡 What happens if RP is not managed?
Without proper care, RP can lead to:
✔ Complete vision loss in severe cases.
✔ Difficulty performing daily tasks like reading and walking.
✔ Increased risk of accidents due to poor night vision.
💡 Early diagnosis and protective measures help preserve vision longer.
💡 Can RP affect future pregnancies?
Yes. If one parent has RP, each child may inherit the condition, depending on the genetic type.
✔ Prenatal testing (₹35,000) can check if an unborn baby has it.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help select healthy embryos.
💡 Dr. Roshan Daniel has helped many families understand their risks and plan for safe pregnancies.
Genetic Testing and Counselling for Retinitis Pigmentosa
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Comprehensive eye exams (ERG, OCT, Visual Field Tests)
✔ Genetic testing for RP mutations
✔ Low-vision rehabilitation and assistive device recommendations
✔ Family screening and genetic counselling
✔ Online consultations for remote patients
If you or a family member has trouble seeing at night, tunnel vision, or a family history of RP, early testing can help plan better treatment.
Join Us in Spreading Awareness!
Retinitis Pigmentosa often goes undiagnosed until vision loss becomes severe. Spreading awareness about early testing and protective measures can help people preserve their vision for longer.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring that families get the right information and care.
For expert advice on genetic testing, counselling, or RP care, contact Dr. Roshan Daniel at KIMSHealth today! 💙