Retinitis Pigmentosa Treatment Program

Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal dystrophies characterized by the gradual and progressive degeneration of the photoreceptor layer of the retina, particularly affecting the rods, which are responsible for vision in low-light conditions. Over time, this degenerative process extends to involve the cones and adjacent retinal structures, ultimately disrupting the complex architecture and function of the retina. The condition is associated with retinal pigmentary changes, thinning of the retinal layers, and degeneration of the retinal pigment epithelium (RPE), all of which contribute to a steady decline in visual capacity. RP is recognized as a chronic, lifelong disorder that typically follows a bilateral and symmetric progression, significantly impacting an individual’s functional vision and quality of life as the disease advances. Despite its rarity, RP represents one of the most common forms of inherited retinal degeneration worldwide and remains a major focus of ongoing ophthalmic research and clinical innovation.

Why Cuba

Cuba has developed a comprehensive and integrative treatment protocol for patients with Retinitis Pigmentosa by combining surgical, biochemical, and neurostimulatory techniques. Developed by experienced Cuban ophthalmologists, this approach focuses on enhancing the retina’s blood supply, oxygenation, and nourishment to revitalize remaining photoreceptors and preserve visual function.

While the Cuban model shares fundamental goals with international treatment protocol in slowing disease progression, preserving remaining photoreceptor function and improving quality of life through, it distinguishes itself by emphasizing enhancement of retinal microcirculation, biological revitalization of remaining photoreceptors, and systemic support through integrative therapies.

Importance of Photoreceptor Layer of the Retina

The photoreceptor layer of the retina is critically important for vision, as it contains the specialized cells—rods and cones—responsible for converting light into electrical signals that are transmitted to the brain via the optic nerve. This layer serves as the retina’s primary interface with incoming light, enabling key visual functions such as night vision, color perception, and central and peripheral visual acuity. Damage or degeneration of the photoreceptor layer leads to progressive vision loss and, in many cases, irreversible blindness. Because the photoreceptor layer is essential for capturing and processing visual stimuli, preserving its structure and function is a primary focus in the diagnosis, monitoring, and treatment of retinal diseases.

Types and Classification of Retinitis Pigmentosa

Retinitis Pigmentosa (RP) is not a single disease but rather a group of genetically heterogeneous inherited retinal dystrophies, and it is classified based on genetic inheritance patterns, clinical presentation, and associated systemic features.

• Classification by Inheritance Pattern (Genetic Type)

Retinitis Pigmentosa can be inherited in several ways, each with varying severity and age of onset:

• • Autosomal Recessive RP (arRP)
    • The most common form of RP.
    • Both parents are typically carriers, and the child must inherit two defective copies of the gene.
    • Often associated with a later onset and slower progression.

• • Autosomal Dominant RP (adRP)
    • One parent usually has RP and passes it on to offspring.
    • Tends to have an earlier onset but a milder and slower progression compared to recessive types.

• • X-Linked RP (XLRP)
    • More severe form, predominantly affects males.
    • Female carriers may show mild symptoms.
    • Onset is usually early childhood, with rapid progression to significant vision loss.

• • Sporadic RP
    • Occurs in patients with no known family history.
    • May result from new genetic mutations or unrecognized inheritance patterns.

• Classification by Clinical Presentation

• • Typical RP
    • Begins with night blindness, followed by progressive peripheral vision loss, eventually affecting central vision.
    • Bone-spicule pigmentation and retinal vessel narrowing observed on fundoscopic exam.

• • RP Sine Pigmento
    • Atypical form of RP where retinal pigmentation is minimal or absent.
    • Diagnosis may be delayed due to subtle fundus changes.

• • Sector RP
    • Localized form where only a portion of the retina is affected, often in the inferior quadrants.
    • Visual function may remain stable for longer periods.

• • Pericentral RP
    • Affects the pericentral retina first, preserving the far peripheral and central vision in early stages.

• • Inverse RP (Central RP)
    • Primarily affects the macula early, causing central vision loss before peripheral vision.

• Classification by Associated Syndromes

Some forms of RP are part of systemic genetic syndromes, meaning the disease affects more than just the eyes.

• • Usher Syndrome
    • RP with congenital hearing loss.
    • Most common syndromic form of RP.

• • Bardet-Biedl Syndrome
    • RP with obesity, polydactyly, intellectual disability, and kidney dysfunction.

• • Refsum Disease
    • RP associated with neuropathy, ataxia, and elevated phytanic acid levels.

Diagnostic Exams and Tests for Retinitis Pigmentosa (RP)

Diagnosing Retinitis Pigmentosa (RP) requires a combination of clinical evaluation, advanced imaging, functional testing, and genetic analysis. These tests provide comprehensive insights into the structure and function of the retina, helping ophthalmologists confirm the diagnosis, track disease progression, and differentiate RP from other retinal dystrophies.

Comprehensive Dilated Eye Examination

A thorough clinical examination includes:

• Funduscopy (Ophthalmoscopy): Direct visualization of the retina

• Visual Field Testing (Perimetry): Measures the patient’s peripheral (side) vision, which is gradually lost in RP.

• Electroretinography (ERG): Measures the electrical responses of the retina (rods and cones) to light stimuli.

• Optical Coherence Tomography (OCT): A non-invasive imaging test that provides cross-sectional, high-resolution images of the retinal layers.

• Fundus Autofluorescence (FAF): Evaluates retinal pigment epithelium (RPE) health by detecting natural fluorescence from lipofuscin.

• Genetic Testing: Identifies specific gene mutations responsible for RP in a given individual or family.
• Useful for:

• Color Vision Testing: May detect color perception abnormalities, particularly in cone involvement.

Cuban Treatment Protocol for Retinitis Pigmentosa

Cuba’s treatment model for Retinitis Pigmentosa is structured in three coordinated phases, each designed to address a specific aspect of retinal health and function.

Revitalizing Surgery (Fat Tissue Implantation)

• The first stage of the Cuban RP treatment involves a surgical intervention in both eyes. During this procedure, fat-derived blood tissue is implanted near the retina. The goal is to improve the metabolic environment of the eye by delivering essential growth factors, nutrients, and microcirculation support to the remaining functional photoreceptor cells.

• This surgery aims to stabilize or enhance the function of retinal cells that have not yet been destroyed by the disease.

• It is a low-risk, supportive intervention intended to promote a more favorable retinal microenvironment and slow cellular degeneration.

Ozone Therapy

• The second phase involves therapeutic ozone administration, which may be delivered intravenously or rectally, depending on the patient’s clinical profile.

• Ozone therapy is used to increase oxygen delivery, reduce oxidative stress, and enhance mitochondrial activity in retinal and systemic tissues.

• The dosage and frequency are customized based on the patient’s general health, age, and the severity of their visual impairment.

• This stage supports both systemic circulation and ocular microvascular function, critical in a disease that compromises photoreceptor viability over time.

Electro-Stimulation Therapy

• The final stage involves electromagnetic stimulation therapy, designed to activate blood flow in the eye and stimulate neural connections.

• This therapy is non-invasive and involves low-frequency pulses aimed at enhancing retinal responsiveness and improving local circulation.

• Electro-stimulation also supports neurological pathways, which may help prolong the functional life of photoreceptors and optimize residual visual input.