Retinitis Pigmentosa

Eye health is one of our most precious treasures, allowing us to experience the beauties of life to the fullest. However, in some cases, our innate genetic heritage can deeply affect how our eyes perceive light. Commonly known as "Night Blindness" (Tavuk Karası), Retinitis Pigmentosa is a complex, genetically based eye disease that leads to progressive vision loss.

What is Retinitis Pigmentosa (Night Blindness)?

Retinitis Pigmentosa (RP) is not a single disease but a general name for a broad group of hereditary retinal dystrophies that cause the light-sensitive cells of the retina to degenerate slowly and irreversibly.

There are two main types of photoreceptor cells in our retina: Rod cells and Cone cells.

1. Rod Cells: Located mostly in the peripheral parts of the retina, they allow us to see in dim light and darkness and perceive the edges of our visual field.
2. Cone Cells: Concentrated in the center of the retina (macula), they enable sharp, detailed vision and color perception in bright environments.

In Retinitis Pigmentosa, rod cells are the first and most severely damaged due to genetic mutations. As these cells die, the patient first loses vision in the dark, followed by peripheral vision. As the disease progresses, the central cone cells are also affected, eventually endangering central and color vision.

Causes and Genetic Factors

Retinitis Pigmentosa is an entirely hereditary disease caused by mutations in the genes responsible for producing the proteins necessary for the retina to function healthily. Today, more than 100 different gene mutations causing RP have been identified. The disease can be passed down through three main inheritance patterns:

1. Autosomal Recessive: The most common type. Both parents are carriers but are not sick themselves; the child must inherit the faulty gene from both parents.
2. Autosomal Dominant: Having only one parent with the faulty gene increases the child's risk of disease by 50%.
3. X-Linked Inheritance: The faulty gene is passed from a carrier mother to a male child, usually resulting in an earlier onset and more severe progression in males.

What are the Symptoms of Retinitis Pigmentosa?

Symptoms and the rate of progression vary based on the specific gene mutation. While it usually begins in childhood or early youth, the most prominent complaints include:

1. Night Blindness (Nyctalopia): The earliest and most classic symptom. Patients cannot see in twilight or dim light (e.g., cinema halls) and struggle to adapt to darkness.
2. Tunnel Vision (Peripheral Vision Loss): As the disease moves from the edges to the center, the visual field narrows significantly. Patients feel as if they are looking through a narrow pipe, leading to tripping or bumping into objects.
3. Light Sensitivity (Photophobia): Intense glare and discomfort in bright environments.
4. Central Vision Loss: In the final stages, the death of central cone cells leads to the loss of the ability to read, recognize faces, and see fine details.

Diagnosis and Monitoring with Superior Technology

Accurate diagnosis and mapping the genetic landscape are vital for predicting the disease's course. Specialist Dr. Ayşe Öner and her team utilize advanced diagnostic methods:

1. Dilated Fundus Examination: Reveals the typical "bone spicule" pigments (black/brown deposits) resulting from cell death.
2. Electroretinography (ERG): The gold standard for RP. It measures the electrical responses of retinal cells to light stimuli. In RP patients, these responses are severely weakened or absent.
3. Visual Field Test (Perimetry): Millimetrically maps the degree of peripheral vision loss and tunnel vision.
4. Optical Coherence Tomography (OCT): Visualizes thinning in the macula or complications like Cystic Macular Edema at the micron level.
5. Genetic Testing: Essential for every RP patient to identify the specific mutation, determine eligibility for new-generation gene therapies, and perform risk analysis for family members.

Treatment Approaches and Future Horizons

While there is currently no standard pill or surgery to cure all forms of RP, a wide range of services are offered to slow progression and protect existing vision:

1. Gene Therapies (Luxturna and Ongoing Trials)

The biggest breakthrough in modern medicine. FDA-approved gene therapy (Luxturna) is now available for hereditary retinal dystrophies caused by the RPE65 gene mutation. This involves injecting a functional gene into the subretinal space via a viral vector. Our clinic provides high-level medical consultancy for international patients regarding eligibility for these treatments or participation in global clinical trials.

2. Supportive Treatments

1. Vitamin A and Supplements: Specific doses of Vitamin A palmitate, taken under strict medical supervision, have been shown to slow progression in certain RP types.
2. UV Protection: Specialized filtered sunglasses are prescribed to protect the retina from harmful ultraviolet rays.
3. Cystic Macular Edema Treatment: Managed with eye drops or intraocular injections to support central vision.

3. Bionic Eye and Stem Cell

For patients who have completely lost light perception, epiretinal implants like Argus II (Bionic Eye) can be considered to perceive silhouettes and movement. Furthermore, our scientific board meticulously monitors international Phase trials regarding stem cell therapies.

4. Low Vision Aids and Rehabilitation

Telescopic glasses, special magnifiers, and electronic reading systems are used in detailed programs to ensure maximum adaptation to daily life.

Retinitis Pigmentosa is not an end but a process to be managed with science and the right monitoring. Contact us to decode your genetic cipher and protect your eye health with the world's most advanced technologies.