Retinitis Pigmentosa (Night Blindness)
By Dr. Nejmi Öztürk, ophthalmologist and eye surgeon working in the diagnosis and treatment of retinal diseases, at HG Hospital in Kahramanmaraş, Türkiye — diagnosis, regular follow-up and treatment of complications
- Retinitis pigmentosa (RP) is a group of diseases in which the light-sensing cells of the retina are gradually lost for inherited reasons.
- Symptoms begin with difficulty seeing at night; over the years peripheral (side) vision narrows (tunnel vision), while central vision can be preserved for a long time.
- Today there is no established treatment that stops the disease; regular follow-up, treatment of complications such as cataract and macular edema, and low-vision rehabilitation help preserve quality of vision.
- At HG Hospital in Kahramanmaraş, diagnosis and follow-up are carried out by Dr. Nejmi Öztürk; referral is arranged for genetic testing and counseling.
What is retinitis pigmentosa?
Retinitis pigmentosa (often called “night blindness” after its earliest symptom) is a group of diseases in which the light-sensitive cells of the retina (the light-sensing layer at the back of the eye) gradually lose their function for inherited reasons. The retina has two kinds of light-sensing cells: rod cells, which work in the dark and in peripheral vision, and cone cells, which are responsible for daytime, color and central vision. The disease usually affects the rod cells before the cones, which is why the earliest symptom is night blindness. It affects roughly one in every 4,000 people.
The disease arises from changes in genes and can be passed on within families. There are three patterns of inheritance: dominant (seen in every generation), recessive (both parents are carriers but do not have the disease themselves) and X-linked (mostly affects boys). Recessive forms are more common in families where marriage between relatives is common. Some patients have no other affected family member. Retinitis pigmentosa can sometimes occur together with findings in other organs, such as hearing loss (syndromic forms).
What are the symptoms of night blindness and retinitis pigmentosa?
Symptoms usually begin in childhood or adolescence and progress slowly over the years:
- Difficulty seeing in dim light and at night; taking a long time to adjust to the dark; difficulty walking outdoors in the evening
- Narrowing of peripheral vision: bumping into objects at the sides, tripping over people in crowds; in the advanced stage, “tunnel vision”, as if looking through a pipe
- Glare and light sensitivity in bright light
- Weaker color discrimination and difficulty reading (when the cone cells are affected, usually in the advanced stage)
- Problems that often accompany it: early cataract (clouding of the lens), macular edema (swelling at the center of vision), high myopia
Who needs follow-up and assessment?
- People of any age who have difficulty seeing at night or whose peripheral vision is narrowing
- People with a family history of retinitis pigmentosa and their children (for screening, even without symptoms)
- Families in which the parents are related and who notice that a child fears the dark, avoids light or walks clumsily
- Patients planning marriage or children, and family members who may be carriers (for genetic counseling)
Who is it not suitable for?
- Night blindness can also have other causes, such as vitamin A deficiency, certain medicines, high myopia or glaucoma; retinitis pigmentosa is not diagnosed until these causes have been ruled out.
- Approved gene therapy is suitable only for a small number of patients who carry a change in both copies of one specific gene (RPE65) and who still have enough living retinal cells; it is not used for other gene types.
- High-dose vitamin A should not be taken without medical supervision; it can harm the liver and is unsafe in pregnancy.
How are the examination and tests done?
The diagnosis is made from the typical retinal findings and the ERG test, which measures the electrical response of the retina; genetic testing confirms the diagnosis and identifies the pattern of inheritance.
- Visual acuity and eye pressure measurement
- Dilated retinal examination: Dark clumps of pigment shaped like bone cells, narrowed vessels and a pale optic nerve are the typical findings. The effect of the drops lasts 4–6 hours; you should not drive.
- ERG (electroretinography): Measures the electrical response of the retina to light; in retinitis pigmentosa this response is reduced or absent. The test takes 30–60 minutes and can establish the diagnosis even when the retina still looks normal.
- Visual field test: Measures the degree of narrowing of peripheral vision and tracks progression over the years.
- OCT (optical coherence tomography): Shows the layers of the retina in cross-section; it measures macular edema and the area of healthy cells that remains.
- Genetic testing and counseling: The responsible gene is searched for in a blood sample. The result shows the pattern of inheritance, the risk to family members and whether the patient is eligible for approved or research-stage treatments. Testing and counseling are planned together with the medical genetics department.
How are follow-up and treatment done?
Today there is no established treatment that stops or reverses retinitis pigmentosa. The current approach is to monitor the course of the disease, treat the treatable problems in time and help you make the most of the vision that remains.
- Diagnosis and staging: The degree of the disease is determined with the retinal examination, ERG, visual field and OCT; genetic testing is planned.
- Regular follow-up: Usually an examination every 6–12 months, with a visual field test and OCT once a year. The aim is to see the rate of progression and catch complications early.
- Treatment of macular edema: Swelling at the center of vision can be reduced with drops or tablets from the carbonic anhydrase inhibitor group; in cases that do not respond, intravitreal injection options are considered. This treatment can protect central vision.
- Treatment of cataract: If the cataract that develops at an early age in retinitis pigmentosa reduces vision noticeably, it is removed with cataract surgery. The operation does not correct the disease in the retina, but it allows the remaining vision to be used more clearly.
- Protection from light: Outdoors, sunglasses with UV protection and yellow-brown glare-reducing filters are recommended.
- Low-vision rehabilitation: Magnifiers, strong lighting, high-contrast text, screen magnification and text-to-speech apps support daily living skills.
- Driving safety: Night driving should be given up early in the course of the disease. Fitness to hold a driving license is assessed with the visual field test.
- Genetic counseling: The carrier risk of family members and the options in family planning are discussed with a medical geneticist.
What treatments are at the research stage?
Research is promising, but most of it has not yet entered everyday use; this information is not a promise of treatment.
- Gene therapy: An approved gene therapy exists for patients who carry a change in both copies of the RPE65 gene; it is delivered under the retina in an operation and applies only to this gene type. Studies for other genes are continuing.
- Retinal implants: Electronic chips intended to provide perception of light and shapes have been tried in advanced-stage patients; the vision they provide is limited and their use is not widespread.
- Cell-based and optogenetic studies: Approaches such as transplanting new cells or making the remaining cells light-sensitive are at the clinical research stage; their safety and effectiveness results are not yet established.
How is vision affected in retinitis pigmentosa?
The loss starts at the periphery, not the center; for this reason it may go unnoticed for a long time.
- Narrowing of the visual fieldThe light-sensitive cells in the peripheral part of the retina are affected first. For this reason, the first complaints are difficulty seeing at night and slow adaptation to darkness; central vision may be preserved for a long time. Follow-up is done with tests such as the visual field and ERG.
How do the course of the disease and follow-up progress?
- After the initial examination: The diagnosis, the genetic testing plan and the follow-up schedule are given to you in writing.
- The first year: A check every 6 months; if macular edema or cataract develops, treatment is started. A low-vision assessment is done.
- Long term: Progression is monitored with a yearly visual field test and OCT. The course varies greatly from person to person; many patients keep enough central vision to read into middle age.
For patients coming from Elbistan, Afşin, Göksun and the other districts, the examination, visual field test and OCT are scheduled for the same day; yearly checks are timetabled with the travel time in mind.
What are the risks and limitations?
- The disease itself is progressive; follow-up does not stop progression, it manages the complications.
- Medicines for macular edema can have side effects such as kidney stones, tingling and allergy; intravitreal injections carry their own risks.
- In retinitis pigmentosa, cataract surgery carries a higher-than-usual risk of inflammation inside the eye and clouding of the lens capsule; the benefit depends on the condition of the retina.
- Genetic testing may not find the responsible gene in every patient; results sometimes remain uncertain.
Comparison with similar diseases
| Disease | Main symptom | Cause | Treatment approach |
|---|---|---|---|
| Retinitis pigmentosa (night blindness) | Night blindness, narrowing of peripheral vision | Inherited | Follow-up, treatment of complications, rehabilitation |
| Macular degeneration | Blurring of central vision, lines looking bent | Age-related | Anti-VEGF injections in the wet type |
| Glaucoma (eye pressure) | Silent loss of peripheral vision | Pressure inside the eye, nerve damage | Drops, laser, surgery |
Retinitis pigmentosa follow-up in Kahramanmaraş
At HG Hospital in Kahramanmaraş, Türkiye, the diagnosis of retinitis pigmentosa, its regular follow-up and the treatment of complications such as cataract and macular edema are carried out by Dr. Nejmi Öztürk. For special tests such as ERG and genetic testing, referral is made to the relevant centers when needed; the results are assessed together.
HG Hospital is a private hospital contracted with the Turkish social security institution (SGK); patients with valid SGK coverage may use it, although a private-hospital co-payment may apply. Examinations, visual field tests, OCT and the treatment of complications are generally within SGK coverage. Patients without SGK coverage, such as international patients and visitors from abroad, pay privately or through their private or travel health insurance; the hospital checks coverage before treatment. Fee information is given by the hospital after the examination, and insurance coverage is clarified at the consultation.
Dr. Öztürk sees patients only at HG Hospital in Kahramanmaraş. For patients coming from Elbistan, Afşin, Göksun, Ekinözü and Nurhak, the tests are grouped into the same day; screening of several members of the same family can be planned for the same appointment. For details, see the patients from Elbistan and the surrounding area page.
Dr. Nejmi Öztürk sees patients at HG Hospital in Kahramanmaraş, Türkiye. For patients travelling from other districts or from abroad, examination, tests and treatment planning can be arranged for the same day.
Hospital switchboard (within Türkiye): 444 46 46 · E-mail: info@nejmiozturk.com · HG Hospital, Üngüt Mevkii, Prof. Dr. Necmettin Erbakan Blv. No:209, Onikişubat / Kahramanmaraş, Türkiye
Frequently asked questions
Is there a treatment for retinitis pigmentosa?
Today there is no established treatment that stops or reverses the disease. An approved gene therapy exists for one specific gene type; studies for other types are continuing. The current approach is regular follow-up, treatment of cataract and macular edema, and low-vision rehabilitation.
What are the symptoms of night blindness?
Difficulty seeing in dim light, slow adjustment to the dark, bumping into things when walking outdoors in the evening and not noticing objects at the sides are the main symptoms. The distinction from other causes is made with the examination and ERG.
Does retinitis pigmentosa cause blindness?
The disease is progressive, and serious visual restriction is common in the advanced stage; total blindness, however, is not common. Many patients keep enough central vision to read into middle age. The course differs greatly according to the gene type and the individual.
Will my child inherit retinitis pigmentosa?
It depends on the pattern of inheritance. In the dominant form, half of the children may inherit the disease; in the recessive form, if both parents are carriers, the risk is one in four; in the X-linked form, mostly boys are affected. Genetic testing and medical genetics counseling clarify the risk specific to your family.
What is tunnel vision?
Tunnel vision is when the peripheral field of vision narrows and just the central area can be seen; the patient sees as if looking through a pipe. It appears in the advanced stage of retinitis pigmentosa. Its degree is measured with the visual field test, and driving safety is assessed according to this measurement.
Does stem cell or PRP treatment work?
The benefit of stem cell or PRP applications in retinitis pigmentosa has not been scientifically proven; these applications do not stop the disease and carry risks such as infection inside the eye. Cell-based studies are carried out only within clinical research approved by an ethics committee.
Can someone with retinitis pigmentosa drive?
In the early stage, daytime driving may be possible; night driving should be given up early. Fitness to hold a driving license is determined by visual acuity and the visual field test; once peripheral vision falls below a certain level, daytime driving is not safe either.
How much do the follow-up and tests cost?
Fee information is given by the hospital after the examination; insurance coverage is clarified at the consultation. For insured patients, examinations, visual field tests, OCT and the treatment of complications are generally within SGK coverage, although a private-hospital co-payment may apply; patients without SGK coverage pay privately or through their private or travel health insurance.
I am coming from Elbistan; how is my follow-up planned?
The examination, visual field test and OCT are booked for the same day; checks are usually every 6–12 months. Screening of family members can be done at the same appointment.
Sources
- Turkish Ophthalmological Society — todnet.org
- National Eye Institute (NEI) — nei.nih.gov
- American Academy of Ophthalmology (AAO) — aao.org
Related pages
This page is for information only; diagnosis and treatment decisions are made after an examination. The results of any surgical or interventional procedure may vary from person to person. You are advised to obtain detailed advice from your physician before any procedure.
Ophthalmologist and eye surgeon. Graduate of Erciyes University Faculty of Medicine; completed his residency at Ankara Atatürk Training and Research Hospital. With 21 years of experience in cataract and refractive surgery, strabismus, glaucoma, retina and oculoplastic surgery, he sees patients at HG Hospital in Kahramanmaraş, Türkiye. Biography and training
Dr. Nejmi Öztürk
Ophthalmologist and eye surgeon
HG Hospital, Üngüt Mevkii, Prof. Dr. Necmettin Erbakan Blv. No:209, Onikişubat / Kahramanmaraş
+90 506 377 47 68WhatsAppAppointment formHospital switchboard (within Türkiye): 444 46 46 · info@nejmiozturk.com
- Private patients and private health insurance are welcome; patients with SGK coverage may use it (conditions are confirmed by the hospital)
- Same-day examination and test planning for patients travelling from other districts or from abroad
- Getting here and patient information
- Patients from Elbistan and the region