Congenital Bile Acid Synthesis Disorder (CBASD) is a rare metabolic condition that prevents the body from producing primary bile acids, which are essential for absorbing fat-soluble vitamins such as Vitamin A and E. Without these nutrients, the retina and optic nerve can deteriorate over time, leading to progressive vision loss if the underlying metabolic condition is not treated. Specialized metabolic and retinal diagnostic services for this condition are scarce across Ethiopia. Optic Atrophy Treatment Center works with Ethiopian families exploring stem cell therapy for the eye/vision component of CBASD.
As a rare metabolic-genetic condition, CBASD requires coordinated care across metabolic medicine, genetics, and ophthalmology that is difficult to access within Ethiopia. Families often travel abroad to access specialized retinal/optic nerve evaluation and explore regenerative treatment options for the progressive vision loss, alongside bile acid replacement therapy managed by a metabolic specialist.

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

Senior Consultant Ophthalmologist & Eye Surgeon· 26+ yrs experience

Consultant Ophthalmologist & Eye Surgeon, MD, DO .16+ Years Experience
Stem cell therapy is studied for its potential to help support optic nerve tissue affected by Costeff Syndrome. It addresses the vision component only — the movement-related features (chorea, spasticity) require ongoing management by a neurologist.
Suitability depends on the stage of retinal/optic nerve involvement and how well the underlying metabolic condition is controlled. Before travelling, our team reviews:

From the first time we talked to the team and in all the discussions that followed, the team was really easy to talk to and explained everything clearly. They took the time to understand what was going on

Highly trustworthy! From consultation to follow-up, the team was responsive and dedicated. Excellent facilities and patient-focused approach
” No — these are three distinct genetic conditions. CBASD specifically involves an inability to produce primary bile acids, which secondarily damages the retina and optic nerve through fat-soluble vitamin deficiency”
“No. Bile acid replacement therapy and vitamin supplementation, managed by a metabolic specialist, remain the priority. Our evaluation addresses the resulting eye/optic nerve damage.”
” Serum bile acid analysis, genetic test results if available, ERG results, and OCT scan.”
“Yes. Once treatment is confirmed, we provide the invitation and supporting documents Ethiopian citizens need to apply for a Medical Visa through the Indian Embassy in Addis Ababa”

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