Leber Congenital Amaurosis (LCA) is among the most severe of the inherited retinal dystrophies, typically causing profound visual impairment from birth or within the first few months of life. It is one of the leading identifiable causes of inherited blindness in infants, and a diagnosis understandably brings urgent questions for Ghanaian parents about what caused it and what can be done as early as possible.
Because LCA presents so early in life, the approach to evaluation differs from that used for adult-onset retinal dystrophies — the priority is confirming the diagnosis quickly, identifying the responsible gene wherever possible, and starting appropriate support for the child’s visual and developmental needs without unnecessary delay.
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years Experience
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Patients treated
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Guided facility
Ocular Symptoms
Parents typically notice poor visual fixation and tracking, wandering or roving eye movements (nystagmus), and unusual sensitivity to light within the first weeks to months of life. A characteristic behaviour known as the oculodigital sign — the child pressing, poking, or rubbing at their eyes — is common and thought to be a way of generating visual sensation. Many affected children also show significant hyperopia (far-sightedness) on refraction testing.
Underlying Causes
LCA is genetically very diverse, with mutations identified across more than two dozen different genes, GUCY2D, RPE65, and CEP290 among the most frequently implicated. Inheritance is most often autosomal recessive. The particular gene involved matters a great deal, since it can influence the pattern of associated findings and, in some cases, eligibility for gene-specific treatments.
Diagnosis for Ghanaian Patients
Electroretinography in LCA typically shows a severely reduced or entirely absent response even in early infancy, a key feature that helps distinguish it from other causes of poor infant vision such as delayed visual maturation. Genetic testing is strongly encouraged as early as feasible, with particular attention to RPE65-related mutations, since identifying the exact gene shapes both prognosis discussions and future treatment eligibility.
Meet The Team
Our Eye Specialists
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 how early and severely LCA presents, care planning combines a retinal evaluation for regenerative stem cell therapy where testing supports it, with prompt low-vision and developmental support suited to a young child, since early intervention can meaningfully shape a child’s broader developmental trajectory. Families are guided through what to expect at each stage of the child’s growth.
Reviews
What Our Patients Say
DR NAAGALAKSHMI R
1 week ago
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!
Overall, I am satisfied with the service and care. Highly recommended!
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
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
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!
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
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 Leber Congenital Amaurosis mean a child is born completely blind?
“Not necessarily — the degree of visual impairment varies by gene and by individual, and some children retain limited but useful light perception or form vision. A full evaluation is needed to work out the specific level of function in each case.”
At what age should we bring our child in for evaluation?
”
As early as possible once poor visual behaviour is noticed. Earlier evaluation allows genetic testing to happen sooner, which matters particularly for identifying RPE65-related cases, and lets developmental support begin without unnecessary delay.”
Is genetic testing really necessary if the diagnosis already seems obvious?
“Yes — because LCA can arise from more than twenty different genes, pinning down the specific one affects the outlook and may be relevant to eligibility for gene-specific treatments being developed or already available for certain gene types, RPE65 in particular.”
Will our child be able to attend a mainstream school?
“This depends heavily on how much residual vision remains and how early developmental and low-vision support begins. Many children with LCA benefit significantly from early intervention services, and we can talk through what that might look like for your child’s specific situation.”
