Leber Congenital Amaurosis Treatment in Rwanda

Of all the inherited retinal dystrophies, LCA — short for Leber Congenital Amaurosis — is generally regarded as the most severe, showing up at birth or within a baby’s first few months and bringing substantial vision impairment from the very start. It’s counted among the leading causes of identifiable blindness in infancy, so families in Rwanda facing this news almost always come to us with pressing questions about what caused it and what happens next.
Because LCA declares itself so early, the way we approach evaluation differs quite a bit from adult-onset retinal disease. Speed is what matters most — reaching a confirmed diagnosis quickly, tracking down the responsible gene wherever that’s possible, and starting developmental and low-vision support for the child without any avoidable delay.

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    Ocular Symptoms

    Within the first weeks and months, parents typically notice their baby isn’t fixing or tracking well visually, along with wandering eye movements called nystagmus, and marked discomfort in bright light. A behaviour known as the oculodigital sign — repeated pressing or poking at the eyes — turns up often, believed to be the infant’s own way of stimulating some form of visual sensation. Testing frequently also picks up a substantial degree of far-sightedness.

    Underlying Causes

    LCA has been linked to well over twenty different genes, with GUCY2D, RPE65, and CEP290 responsible for a large share of confirmed diagnoses, and it’s inherited in an autosomal recessive pattern in most families. The particular gene involved genuinely matters — it can point toward other findings worth watching for, and in a handful of cases, it opens the door to gene-targeted treatment.

    Diagnosis for Rwandan Patients

    A flat or severely blunted electroretinogram is the hallmark finding in LCA, and it’s the main way clinicians distinguish it from other causes of poor vision in a young infant, such as simple delayed visual maturation. We recommend genetic testing be arranged as soon as possible, with special focus on RPE65 mutations, because the specific gene identified has a direct bearing on both prognosis and eligibility for any future treatment.
    Meet The Team

    Our Eye Specialists

    Male doctor icon with stethoscope symbolizing healthcare professional.

    Dr. Pawan

    Associate Professor, Vitreo-Retina Surgeon. 10+ Years Experience

    Retinal disorders, diabetic retinopathy, and advanced retina procedures. Provides diagnostic evaluation and treatment planning for international patients.

    Dr.Pallavee

    Senior Consultant Ophthalmologist & Eye Surgeon· 26+ yrs experience

    Areas of Focus: Cataract surgery, corneal disorders, refractive procedures, and glaucoma management. Provides comprehensive eye care and surgical expertise for global patients.

    Dr. Robin

    Consultant Ophthalmologist & Eye Surgeon, MD, DO .16+ Years Experience

    Areas of Focus: Cataract surgery, corneal disorders, refractive procedures, and glaucoma management. Provides comprehensive eye care and surgical expertise for global patients.

    Treatment Approach in India

    Given the severity and early onset of LCA, our approach pairs a full retinal work-up — including consideration of stem cell therapy where the findings justify it — with immediate low-vision and developmental support appropriate for a young child, recognising that early support can meaningfully change how a child develops more broadly. We stay engaged as the child grows, helping families understand what each new stage tends to bring.
    Reviews

    What Our Patients Say

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    5.0
    Based on 9 reviews
    Asha Babbar profile picture
    Asha Babbar
    2 weeks ago
    The overall experience at the RP Treatment Center was very good. The staff was supportive and caring, and we provided proper attention and guidance during treatment. The environment at the center was clean and comfortable. The doctors and staff tried to understand patients' needs and explained the treatment process well.

    Overall, I am satisfied with the service and care. Highly recommended!
    Harshita Kapoor profile picture
    Harshita Kapoor
    2 weeks ago
    Life‑Changing Experience with RP Therapy”
    After years of struggling with vision loss due to Retinitis Pigmentosa, I finally found hope here. The doctors were highly professional, explained the stem cell treatment in detail, and gave me confidence at every step. The therapy was smooth, and I’ve already noticed positive changes in my daily life. Their dedication, care, and advanced medical approach make this center truly trustworthy
    Yash Chauhan profile picture
    Yash Chauhan
    2 weeks ago
    I had a really good experience at RP Treatment Centre. The doctor listened to my problem patiently and explained the treatment in a simple way. The staff was polite and the clinic was clean. I started feeling better after the treatment. Highly recommended!
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    pragya chauhan
    2 weeks ago
    Very satisfied with the service. The doctor is experienced and gives proper attention to every patient. The staff is friendly, and the overall environment is comfortable. Thank you, RP Treatment Centre, for the excellent care.
    Manisha kapoor profile picture
    Manisha kapoor
    2 weeks ago
    I had been struggling with Retinitis Pigmentosa for years, and finding this center was truly life‑changing. The doctors provided a thorough medical evaluation and explained every step of the stem cell therapy process with clarity. The treatment was smooth, professional, and I noticed encouraging improvements in my vision within weeks. Their continuous follow‑up care and compassionate support made me feel confident throughout the journey. Highly recommended for anyone seeking advanced RP treatment in India.

    Frequently Asked Questions

    Does an LCA diagnosis mean our baby can’t see at all?


    Not necessarily. How much vision is affected depends on the specific gene at play and on the child, and many retain some degree of usable light perception, and sometimes basic form vision too. A thorough assessment tells us exactly what function is present in each individual case.”

    How fast should we get our child seen?


    As soon as you notice anything unusual about how they’re seeing or responding visually. Acting early means genetic testing can start sooner — crucial for identifying RPE65-related cases — and means developmental support can begin without wasted time.”

    The signs already point clearly to LCA — do we still need genetic testing?

    “We’d still strongly suggest it. Since more than twenty genes can cause LCA, knowing precisely which one is involved shapes the prognosis and may open access to gene-specific treatments now available or under development, particularly where RPE65 is the cause.”

    Is mainstream school a realistic option for a child with LCA?

    “That depends a great deal on the amount of functional vision present and how early support begins. Many children with LCA go on to do well given the right early intervention, and we’d welcome the chance to talk through what that could look like for your child.”

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