Rosenberg-Chutorian syndrome
Rosenberg-Chutorian Syndrome[edit | edit source]
Rosenberg-Chutorian Syndrome is a rare genetic disorder characterized by a combination of sensorineural hearing loss, optic atrophy, and neurological abnormalities. This condition is inherited in an X-linked recessive pattern, primarily affecting males, while females may be carriers of the genetic mutation.
Clinical Features[edit | edit source]
The primary clinical features of Rosenberg-Chutorian Syndrome include:
- Sensorineural Hearing Loss: This type of hearing loss is due to damage to the inner ear or the nerve pathways from the inner ear to the brain. It is typically bilateral and progressive.
- Optic Atrophy: This refers to the degeneration of the optic nerve, leading to a progressive loss of vision. Patients may experience difficulties with visual acuity and color vision.
- Neurological Abnormalities: These can include developmental delays, intellectual disability, and other neurological symptoms such as ataxia or seizures.
Genetic Basis[edit | edit source]
Rosenberg-Chutorian Syndrome is caused by mutations in the COL4A5 gene, which is located on the X chromosome. This gene is responsible for encoding a component of type IV collagen, which is crucial for the structural integrity of basement membranes in various tissues.
Diagnosis[edit | edit source]
Diagnosis of Rosenberg-Chutorian Syndrome is based on clinical evaluation, family history, and genetic testing. Audiological assessments, ophthalmological examinations, and neurological evaluations are essential for identifying the characteristic features of the syndrome.
Management[edit | edit source]
There is currently no cure for Rosenberg-Chutorian Syndrome. Management focuses on symptomatic treatment and supportive care:
- Hearing Aids: To assist with hearing loss.
- Vision Support: Including corrective lenses and low vision aids.
- Educational Support: Special education programs and therapies to address developmental and intellectual challenges.
Research and Future Directions[edit | edit source]
Research is ongoing to better understand the pathophysiology of Rosenberg-Chutorian Syndrome and to develop potential therapies. Gene therapy and other molecular approaches are being explored as possible future treatments.
See Also[edit | edit source]
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NIH genetic and rare disease info[edit source]
Rosenberg-Chutorian syndrome is a rare disease.
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