.png){kind=small}
Understanding Retinitis Pigmentosa & the Role of Genetic Testing
- Codex
- Jan 29
- 3 min read
Retinitis pigmentosa (RP) is a rare eye condition, but for those affected, its impact can be life‑changing. In Hong Kong, many patients live with unanswered questions for years — Why is vision gradually worsening? Will other family members be affected? Are there new treatment options on the horizon?
With advances in genetic testing and precision medicine, answering these questions is now possible. Identifying the genetic cause of RP has become a cornerstone of accurate diagnosis, long‑term planning, and access to emerging therapies [1], [2].
What Is Retinitis Pigmentosa?
Retinitis pigmentosa is a group of inherited retinal disorders characterized by the progressive degeneration of photoreceptor cells in the retina [1].
Typical symptoms include:
Difficulty seeing in low light or at night
Gradual loss of peripheral vision
“Tunnel vision” in later stages
In some cases, loss of central vision
Globally, RP affects approximately 1 in 3,000–4,000 people, making it the most common inherited retinal dystrophy despite being classified as a rare disease [1], [3].
Why RP Is a Genetic Condition
RP is caused by mutations in genes that are essential for retinal structure and function. To date, over 80–90 genes have been linked to RP, reflecting its high genetic diversity [1], [2].
RP may be inherited through:
Autosomal recessive inheritance
Autosomal dominant inheritance
X‑linked inheritance
Because symptoms often look similar across different RP subtypes, clinical examination alone cannot identify the underlying cause. Genetic testing remains the most reliable way to confirm diagnosis and inheritance pattern [2], [4].
Why Genetic Testing Matters for RP Patients
For many patients and families in Hong Kong, genetic testing provides long‑awaited clarity.
Genetic confirmation can:
✅ Identify the exact RP subtype
✅ Clarify family and inheritance risks
✅ Support family planning and carrier screening
✅ Help determine eligibility for gene‑specific clinical trials
✅ Prepare patients for future gene or cell‑based therapies [2], [5]
Although there is currently no cure for most forms of RP, gene therapy trials are already underway worldwide, and genetic knowledge is a key eligibility requirement [2], [5].
Our Retinitis Pigmentosa Genetic Test
Our RP Genetic Test uses advanced next‑generation sequencing (NGS) technology to analyze a comprehensive set of genes associated with RP and related inherited retinal diseases.
What the test offers:
Broad coverage of RP‑related genes
Suitable for patients, family members, and carriers
Simple sample collection (blood or saliva)
Clear, clinically useful reports
Results suitable for sharing with ophthalmologists or genetic counsellors
This test is suitable for individuals who:
Have been diagnosed with RP
Experience unexplained night blindness or peripheral vision loss
Have a family history of inherited retinal disease
Why This Is Important for Hong Kong Families
In Hong Kong, access to specialised genetic testing for rare eye diseases has traditionally been limited. Many families face long diagnostic journeys before understanding the cause of their condition.
By offering accessible and reliable RP genetic testing, we aim to help patients move from uncertainty to understanding, and from diagnosis to direction.
Early genetic insight allows better:
Medical decision‑making
Long‑term eye health monitoring
Readiness for emerging therapies
Reference
[1] N. Suleman, “Current understanding on retinitis pigmentosa: a literature review,” Front. Ophthalmol., vol. 5, 2025.
[2] R. A. Murati Calderón et al., “Retinitis pigmentosa: From genetic insights to innovative therapeutic approaches,” Medicina, vol. 61, no. 7, 2025.
[3] EyeWiki, “Retinitis Pigmentosa,” American Academy of Ophthalmology, updated Dec. 2025.
[4] K. Baltaziak et al., “Retinitis pigmentosa caused by RPGR mutations,” Ophthalmology Journal, 2024.[5] Foundation Fighting Blindness, “Retinitis Pigmentosa Research Advances,” Oct. 2025.
Comments