Costeff optic atrophy syndrome

Costeff Optic Atrophy Syndrome

Costeff Optic Atrophy Syndrome, also known as 3-methylglutaconic aciduria type III, is a rare genetic disorder characterized by a combination of optic atrophy, movement disorders, and elevated levels of 3-methylglutaconic acid in the urine. This condition is inherited in an autosomal recessive pattern and is associated with mutations in the OPA3 gene.

Clinical Features

The primary clinical features of Costeff Optic Atrophy Syndrome include:

• Optic Atrophy: Progressive loss of vision due to degeneration of the optic nerves. This typically presents in early childhood and can lead to significant visual impairment.
• Movement Disorders: Patients may exhibit a range of movement abnormalities, including dystonia, ataxia, and spasticity. These symptoms can vary in severity and onset.
• 3-Methylglutaconic Aciduria: Elevated levels of 3-methylglutaconic acid in the urine are a biochemical hallmark of the syndrome. This is detected through urine organic acid analysis.

Genetic Basis

Costeff Optic Atrophy Syndrome is caused by mutations in the OPA3 gene, which is located on chromosome 19. The OPA3 gene is involved in mitochondrial function, and mutations lead to mitochondrial dysfunction, which is thought to underlie the clinical manifestations of the syndrome.

Diagnosis

Diagnosis of Costeff Optic Atrophy Syndrome involves a combination of clinical evaluation, genetic testing, and biochemical analysis. Key diagnostic steps include:

• Clinical Evaluation: Assessment of visual acuity, neurological examination, and family history.
• Genetic Testing: Identification of mutations in the OPA3 gene through DNA sequencing.
• Biochemical Testing: Measurement of 3-methylglutaconic acid levels in urine samples.

Management

There is currently no cure for Costeff Optic Atrophy Syndrome, and management focuses on symptomatic treatment and supportive care. Approaches include:

• Vision Support: Use of visual aids and adaptive technologies to assist with vision impairment.
• Physical Therapy: To address movement disorders and improve mobility and coordination.
• Regular Monitoring: Ongoing assessment by a multidisciplinary team to manage symptoms and complications.

Research and Future Directions

Research into Costeff Optic Atrophy Syndrome is ongoing, with studies focusing on understanding the molecular mechanisms of the disease and exploring potential therapeutic interventions. Advances in gene therapy and mitochondrial medicine hold promise for future treatments.

See Also

• Optic Atrophy
• Mitochondrial Disorders
• Genetic Testing

NIH genetic and rare disease info

• NIH info on Costeff optic atrophy syndrome

Costeff optic atrophy syndrome is a rare disease.