Cataract congenital dominant non nuclear
=Cataract Congenital Dominant Non-Nuclear =
Cataract Congenital Dominant Non-Nuclear is a rare genetic disorder characterized by the development of cataracts at birth or during early childhood. Unlike other types of cataracts, this condition specifically affects the non-nuclear regions of the lens, sparing the central nucleus. This article provides a comprehensive overview of the condition, including its Causes, Symptoms, Diagnosis, Treatment, and Prognosis.
Causes[edit | edit source]
Cataract Congenital Dominant Non-Nuclear is primarily caused by genetic mutations. It is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene from an affected parent can cause the disorder. Several genes have been implicated in this condition, including mutations in the CRYAA and CRYBB2 genes, which encode crystallin proteins essential for lens transparency and structure.
Symptoms[edit | edit source]
The primary symptom of Cataract Congenital Dominant Non-Nuclear is the presence of cataracts at birth or early childhood. These cataracts are typically located in the cortical or subcapsular regions of the lens, leaving the central nucleus clear. Symptoms may include:
- Blurred vision
- Glare or halos around lights
- Difficulty seeing in low light conditions
- Nystagmus (involuntary eye movements) in severe cases
Diagnosis[edit | edit source]
Diagnosis of Cataract Congenital Dominant Non-Nuclear involves a thorough eye examination by an ophthalmologist. Key diagnostic procedures include:
- Slit-lamp examination to assess the location and extent of the cataract
- Genetic testing to identify specific mutations associated with the condition
- Family history analysis to determine inheritance patterns
Treatment[edit | edit source]
Treatment for Cataract Congenital Dominant Non-Nuclear depends on the severity of the cataract and its impact on vision. Options include:
- Monitoring: Regular eye exams to track cataract progression
- Surgery: Cataract extraction and lens replacement if vision is significantly impaired
- Visual aids: Glasses or contact lenses to correct refractive errors
Prognosis[edit | edit source]
The prognosis for individuals with Cataract Congenital Dominant Non-Nuclear varies. Early detection and treatment can lead to good visual outcomes. However, untreated cataracts can result in amblyopia (lazy eye) or permanent vision loss. Genetic counseling is recommended for affected families to understand the risks of transmission to offspring.
See Also[edit | edit source]
External Links[edit | edit source]
- Genetic and Rare Diseases Information Center
- [National Eye Institute](https://www.nei.nih.gov/)
NIH genetic and rare disease info[edit source]
Cataract congenital dominant non nuclear is a rare disease.
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Contributors: Prab R. Tumpati, MD