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Bile Syndrome Eye Disease refers to the rare but serious eye complications arising from Congenital Bile Acid Synthesis Disorders (CBASD). This metabolic condition prevents the body from producing primary bile acids, which are essential for absorbing fat-soluble vitamins such as Vitamin A and Vitamin E. Without these nutrients, the retina and optic nerve can deteriorate over time, so addressing the underlying metabolic failure through medical intervention is essential to protecting vision.
10+
years Experience
years Experience
5000+
Patients treated
Patients treated
100+
Countries served
Countries served
NABH
Guided facility
Guided facility
Causes
CBASD is caused by inherited mutations in enzymes responsible for bile acid production, most commonly the HSD3B7 or AKR1D1 genes. This leads to a buildup of abnormal metabolites and a lack of essential fat-soluble vitamins reaching the eye’s tissues.
Symptoms
Early symptoms often include night blindness (difficulty seeing in low light) and progressive narrowing of the visual field. Bitot’s spots — foamy patches on the white of the eye — are a classic sign of the associated Vitamin A deficiency. As the condition progresses, the optic nerve can show signs of atrophy.
Diagnosis
Diagnosis requires serum bile acid analysis and genetic testing. Electroretinography (ERG) measures the electrical response of the eye’s light-sensitive cells, which is often reduced. A comprehensive eye exam may also reveal retinal pigment changes and optic disc pallor.
Treatment — Stem Cell Therapy
The underlying metabolic condition is typically managed with bile acid replacement therapy under a metabolic specialist, alongside vitamin A and E supplementation. Stem cell therapy is studied for its potential to help support the retina and optic nerve tissue once the underlying metabolic cause is being treated.
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.
How Stem Cell Therapy May Help
Mesenchymal Stem Cells (MSCs), typically sourced from bone marrow or umbilical cord tissue, are studied for their potential to support optic nerve tissue health, reduce inflammation, and help preserve remaining visual function. The cells are administered via a minimally invasive procedure — most often through a retrobulbar or intravitreal injection — under the supervision of our ophthalmology and regenerative medicine team. This approach does not restore vision already lost in advanced, complete optic atrophy, but may help support remaining nerve function and quality of life in suitable candidates.
Reviews
What Our Patients Say
Aamit Arora
Your family is very thankful to stem cell cure india for being there for us. The doctors were very understanding and the staff made it a point to see that we were comfortable during the treatment.
Deepak Kumar
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
Frequently Asked Questions
Is CBASD the same as Behr Syndrome or Bardet-Biedl Syndrome?
“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.”
Will this treat the underlying metabolic condition?
“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.”
Are there surgical options if complications develop?
“Yes — for complications like cataracts (common after repeated inflammation or steroid use) or vitreous haemorrhage, surgery such as cataract extraction or vitrectomy can be performed, usually once the eye inflammation is well controlled, to help restore vision.”
