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What is an Inherited Retinal Disease?

Inherited retinal diseases (IRDs) are a group of rare eye disorders caused by genetic variants. These variants lead to dysfunction and degeneration of the retina's photoreceptor cells (rods and cones), which are essential for vision. IRDs are progressive, meaning vision loss worsens over time, and they are a leading cause of blindness in young and middle-aged adults. Examples of IRDs include Retinitis Pigmentosa (RP), Stargardt disease, and Leber congenital amaurosis (LCA).

What is Genetic Diagnosis?

Genetic diagnosis is a specialized process used to identify the specific gene variant responsible for an inherited disease. In the context of IRDs, a genetic diagnosis goes beyond a standard eye exam to provide a precise, molecular-level understanding of a patient's condition. While a clinical diagnosis identifies the disease based on symptoms, a genetic diagnosis pinpoints the underlying cause, which is crucial for:

  • Understanding Prognosis: Predicting the likely course of vision loss.

  • Family Planning: Assessing the risk of passing the condition to future generations.

  • Eligibility for Emerging Therapies: Many new treatments, especially gene therapies, are designed to correct a specific genetic mutation.

When Should I Get Genetic Testing?

Genetic testing is a vital step for anyone diagnosed with an inherited retinal disease. It is particularly recommended when:

  • You have received a clinical diagnosis of an IRD.

  • You or your family have a history of an inherited retinal disease.

  • You are interested in exploring new gene therapies or clinical trials.

  • You are considering family planning and wish to understand genetic risks.

Genetic Counseling

Genetic Diagnosis Processes

The process of genetic diagnosis for IRDs is a comprehensive, multi-step journey that requires expert oversight, especially in a field as complex as genetics.

  • Genetic Counseling

    • The journey begins with a session with a genetic counselor. This professional will discuss your family history, explain the process of genetic testing, and help you understand the potential implications of the results. This is a crucial step for setting realistic expectations and addressing any concerns you may have.

  • Blood Collection

    • A simple blood sample is all that is typically required for the testing. The DNA is then extracted from the blood cells and prepared for analysis.

  • Next-Generation Sequencing (NGS)

    • Next-Generation Sequencing is a powerful technology that allows for the rapid and simultaneous analysis of hundreds of genes associated with IRDs. This method can scan a patient's entire genetic code to find potential mutations, providing a far more comprehensive analysis than traditional single-gene testing.

  • Interpretation by Experts Meeting

    • Once the genetic data is obtained, it is analyzed by a team of experts, including geneticists and ophthalmologists. The results are carefully interpreted in the context of the patient's clinical symptoms and family history to identify the specific causative gene mutation.

  • Results Explanation

    • The findings are communicated to you and your ophthalmologist in a clear and understandable manner. The genetic counselor or a specialist will explain what the results mean for your diagnosis, prognosis, and potential treatment options.

Blood Collection
NGS
Interpretation
Results Explanation

Risks of Undergoing Genetic Diagnosis

While the genetic diagnosis process is non-invasive and generally safe, it's important to be aware of the potential limitations and emotional considerations. The primary risk is that even with advanced technology like Next-Generation Sequencing, a causative gene mutation may not be found. In fact, nearly half of patients who undergo genetic testing still do not receive a definitive genetic diagnosis. This can be due to:

  • The variant being in a gene not yet associated with IRDs.

  • The variant being in a non-coding region of the DNA.

  • Limitations in current technology.

This underscores the importance of setting realistic expectations through genetic counseling and understanding that a negative result does not invalidate the clinical diagnosis.

Cost of Genetic Diagnosis in Japan

The cost of genetic diagnosis for IRDs in Japan is generally an out-of-pocket expense for international patients and is not covered by public health insurance.

  • Estimated Cost.

    • A comprehensive genetic diagnosis in Japan, including Next-Generation Sequencing and expert interpretation, can range from approximately 800,000 to 1,200,000 JPY.

      • (Approx.: ~$5,130 - $7,690 USD / ¥37,000 - ¥55,600 CNY / ₱302,000 - ₱453,000 PHP / ₹428,000 - ₹642,000 INR / Rp80,000,000 - Rp120,000,000 IDR / ฿188,000 - ฿282,000 THB)

Note: The exchange rates above are approximate and subject to daily fluctuations. The final cost will be paid in Japanese Yen.​​

Estimated Cost

Advantages of Genetic Diagnosis in Japan​

Japan is a global leader in genetic research and regenerative medicine, making it an exceptional choice for genetic diagnosis of IRDs.

  • Pioneering Research: Japanese researchers are at the forefront of identifying new genes associated with IRDs and developing novel therapies, including iPSC-based treatments.

  • Expertise in Interpretation: Access to a multidisciplinary team of geneticists and ophthalmologists ensures that genetic results are interpreted with the highest level of clinical relevance.

  • Access to Emerging Therapies: A precise genetic diagnosis in Japan can be the first step towards qualifying for specific clinical trials or gene therapies available in the country.

  • Uncompromising Quality: The Japanese medical system's commitment to precision and quality ensures the reliability of all testing and results.

​Our Medical Concierge Services

  • What to Expect from Our Services

    • We are your dedicated partner throughout your genetic diagnosis journey in Japan. Our physician-led team ensures every step is guided by expert medical understanding, from your initial consultation to destination choice.

  • Service Flow

  1. Initial Review: Start by completing our secure inquiry form on this page. Tell us about your situation and what you seek from our expert doctors.

  2. Expert Match: Based on your condition and preferences, our physician-led team will precisely match you with ophthalmology experts from our exclusive network across Japan.

  3. Personalized Referrals: We'll propose suitable medical institutions for your treatment in Japan. Our goal is to connect you with the ideal specialist and facility, opening the door for you to experience professional Japanese ophthalmology.​​

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  • Service Fees

    • Email Consultation for Expert Match and Personalized Referrals: Free of Charge

What to Expect from Our Services
Service Flow
Service Fees

Recommended Option: Medical Concierge Consultation

Service Fees: 11,000 JPY / 30 min

​This is a tele-healthcare session with an ophthalmologist from our medical team to thoroughly discuss your condition and preferences face-to-face. Its purpose is to improve the quality of our matching service

Begin Your Free Consultation Today.

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