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Costeff Syndrome, also known as 3-methylglutaconic aciduria type III, is a rare inherited metabolic condition that combines early-onset optic atrophy with later movement difficulties. It typically becomes apparent in early childhood when a child’s vision fails to develop normally, and is followed in later years by chorea — involuntary, irregular movements — along with speech and spasticity issues in some patients. Because the condition affects both the visual and motor systems, coordinated care between ophthalmology and neurology is important.
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years Experience
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Patients treated
Patients treated
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Causes
Costeff Syndrome is caused by mutations in the OPA3 gene, which disrupts mitochondrial function in cells with high energy demands, including the optic nerve. This leads to abnormal excretion of 3-methylglutaconic acid and 3-methylglutaric acid, which is used as a biochemical marker for diagnosis.
Symptoms
Optic atrophy is usually the first and most consistent feature, typically appearing before the age of five and causing significant, often severe, reduction in vision. Chorea and other movement abnormalities usually develop later, in the second decade of life or beyond, and can vary widely in severity between individuals.
Diagnosis
Diagnosis is confirmed through urine organic acid testing, which shows elevated 3-methylglutaconic acid, combined with genetic testing for OPA3 mutations. OCT and visual field testing are used to assess the extent of optic nerve involvement, while a neurology evaluation monitors for movement symptoms as the child grows.
Treatment — Stem Cell Therapy
There is currently no treatment that corrects the underlying OPA3 mitochondrial defect. Movement symptoms are managed by a paediatric neurologist as they emerge. Stem cell therapy is studied for its potential to support the optic nerve component specifically, helping preserve remaining visual function in suitable candidates.
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
Will this treat the movement symptoms (chorea)?
“No. Our evaluation and treatment focus specifically on the optic nerve component. Movement symptoms should be managed by a paediatric neurologist”
At what age does vision loss typically appear?
“Optic atrophy in Costeff Syndrome is usually noticed very early, often before age five, making early paediatric eye examination important for at-risk families.”
Is genetic testing necessary for diagnosis?
“Urine organic acid testing combined with OPA3 genetic testing gives the most reliable confirmation, though our team can also review clinical and OCT findings if testing is still pending.”
