Retinitis Pigmentosa Epidemiology

Key Highlights:

• Retinitis pigmentosa is a family of orphan genetic diseases caused by several mutations in multiple genes involved in the visual cycle. Typically, patients with retinitis pigmentosa begin experiencing vision loss as young adults, with a progression to blindness by age 40.
• Retinitis pigmentosa is the most common IRD, affecting more than 1.5 million patients worldwide, and is classified as a rare disease.
• According to NORD (2021), retinitis pigmentosa as a group of vision disorders affects about 1 in 3,000 to 1 in 4,000 people worldwide. This means about 82,500–110,000 people in the United States have retinitis pigmentosa.
• Retinitis pigmentosa is more common in males (~55%) than in females. 
• In 2023, the total prevalent cases of retinitis pigmentosa were ~274,000 in the 7MM. These cases are projected to rise during the study period.
• RPE65-linked IRD accounts for about 3–16% of Leber congenital amaurosis (LCA2) and approximately 0.6–6% of retinitis pigmentosa.

DelveInsight’s “Retinitis Pigmentosa – Epidemiology Forecast – 2034” report delivers an in-depth understanding of Retinitis Pigmentosa, historical and forecasted epidemiology trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan. 

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2021-2034

Retinitis Pigmentosa Understanding 

Retinitis Pigmentosa Overview

Retinitis pigmentosa (RP) is a group of rare eye diseases that affect the retina (the light-sensitive layer of tissue in the back of the eye). Retinitis pigmentosa makes cells in the retina break down slowly over time, causing vision loss. Retinitis pigmentosa is a genetic disease that people are born with. Symptoms usually start in childhood, and most people eventually lose most of their sight.

There is no cure for retinitis pigmentosa. However, vision aids and rehabilitation (training) programs can help people with retinitis pigmentosa make the most of their vision.

Retinitis Pigmentosa Diagnosis

The diagnostic journey in families with a retinitis pigmentosa history typically commences with thorough genetic counseling, assessing risks, and testing options. Prenatal genetic tests, such as CVS or amniocentesis, may be considered for fetal genetic analysis. After birth, a crucial symptom assessment by an ophthalmologist takes place. While initial retinitis pigmentosa symptoms commonly emerge in young adulthood, delays in referral and diagnosis often postpone confirmation until the age of 35.1 years. Genetic testing then identifies specific mutations. A comprehensive ophthalmologic evaluation, including fundoscopic examination, is indispensable, with ERG and visual field tests significantly contributing to understanding and guiding management.

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Retinitis Pigmentosa Epidemiology

The Retinitis Pigmentosa epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total prevalent cases of retinitis pigmentosa, gender-specific cases of retinitis pigmentosa, type-specific cases of retinitis pigmentosa, sub-type specific cases of syndromic and systemic retinitis pigmentosa, sub-type specific cases of nonsyndromic retinitis pigmentosa in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034.

• In the US, the total number of prevalent cases of retinitis pigmentosa was ~113,200 in 2023.
• Nonsyndromic retinitis pigmentosa is more prevalent than syndromic retinitis pigmentosa, with ~65% of cases of total retinitis pigmentosa.
• Among EU4 and the UK, Germany accounted for the largest number of Retinitis Pigmentosa cases, whereas the UK accounted for the lowest number of cases in 2023. 
• The sub-types of syndromic and systemic retinitis pigmentosa include Usher Syndrome, Bardet–Biedl syndrome, and others. Among them, Usher Syndrome has the highest contribution, ~85% in the United States. 
• The sub-types of nonsyndromic retinitis pigmentosa include autosomal dominant retinitis pigmentosa, autosomal recessive retinitis pigmentosa, X-linked retinitis pigmentosa, sporadic/simplex, Leber congenital amaurosis (LCA).
• X-linked retinitis pigmentosa in the US accounted for ~11,000 cases in 2023

KOL Views 

To keep up with current epidemiology trends, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry experts contacted for insights on Retinitis Pigmentosa’s epidem include Medical/scientific writers, nephrologists, Professors, and others.

Delveinsight’s analysts connected with 30+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. Centers such as the Foundation Fighting Blindness, the American Academy of Ophthalmology, the American Optometric Association, the School of the Johns Hopkins University Wilmer Eye Institute, etc., were contacted. Their opinion helps understand and validate Retinitis Pigmentosa epidemiology trends. 

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Scope of the Report

• The report covers a segment of key events, an executive summary, descriptive overview of Retinitis Pigmentosa, explaining its causes, signs and symptoms, and pathogenesis.
• Comprehensive insight into the epidemiology segments and forecasts of disease progression has been provided.
• The report provides an edge while developing business strategies, understanding trends, expert insights/KOL views, and patient journeys in the 7MM.
• A detailed review of current challenges in establishing the diagnosis.

Retinitis Pigmentosa Report Insights

• Patient Population
• Country-wise Epidemiology Distribution

Retinitis Pigmentosa Report Key Strengths

• Eleven Years Forecast
• The 7MM Coverage 
• Retinitis Pigmentosa Epidemiology Segmentation

Retinitis Pigmentosa Report Assessment

• Current Diagnostic Practices
• Unmet Needs

FAQs

• What are the disease risks, burdens, and unmet needs of retinitis pigmentosa? What will be the growth opportunities across the 7MM concerning the patient population with retinitis pigmentosa?
• What is the historical and forecasted retinitis pigmentosa patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• Which type of retinitis pigmentosa is the largest contributor?
• What is the prevalence of nonsyndromic retinitis pigmentosa by mutant genes?

Reasons to Buy

• Insights on patient burden/disease, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the prevalent cases of retinitis pigmentosa in varying geographies over the coming years.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis and insights on the patient pool.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.

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