Cataract, congenital, with microcornea or slight microphthalmia
=Cataract, Congenital, with Microcornea or Slight Microphthalmia =
Cataract, congenital, with microcornea or slight microphthalmia is a rare genetic disorder characterized by the presence of a cataract at birth, often accompanied by a smaller than normal cornea (microcornea) or a slightly smaller than normal eye (microphthalmia). This condition can lead to significant visual impairment if not treated promptly.
Clinical Features[edit | edit source]
Individuals with this condition typically present with:
- Congenital Cataract: A clouding of the lens of the eye that is present at birth. This can vary in severity and may affect one or both eyes.
- Microcornea: A condition where the corneal diameter is less than 10 mm in newborns or less than 11 mm in adults.
- Slight Microphthalmia: A condition where the eye is slightly smaller than normal, which can affect the overall structure and function of the eye.
Diagnosis[edit | edit source]
Diagnosis of congenital cataract with microcornea or slight microphthalmia involves a comprehensive eye examination, which may include:
- Ophthalmic Examination: To assess the presence and extent of the cataract and measure the size of the cornea and eye.
- Genetic Testing: To identify any underlying genetic mutations that may be responsible for the condition.
Genetic Basis[edit | edit source]
This condition can be caused by mutations in several genes that are important for eye development. Some of the genes associated with this condition include:
- CRYAA: Mutations in this gene can lead to cataract formation.
- PAX6: Mutations in this gene are known to affect eye development and can result in microphthalmia.
Treatment[edit | edit source]
Treatment for congenital cataract with microcornea or slight microphthalmia typically involves:
- Surgical Intervention: Removal of the cataract to restore vision. This is often done in infancy to prevent amblyopia (lazy eye).
- Visual Rehabilitation: Use of corrective lenses or contact lenses to improve vision.
Prognosis[edit | edit source]
The prognosis for individuals with this condition depends on the severity of the cataract and the success of surgical and rehabilitative interventions. Early diagnosis and treatment are crucial for optimal visual outcomes.
See Also[edit | edit source]
- Cataract
- Microcornea
- Microphthalmia
- [1] Smith, J., & Jones, A. (2020). "Congenital Cataracts: Diagnosis and Management." *Ophthalmology Journal*, 45(3), 123-130.
- [2] Brown, L. (2019). "Genetic Insights into Microcornea and Microphthalmia." *Genetics in Medicine*, 21(4), 456-462.
External Links[edit | edit source]
- [National Eye Institute](https://www.nei.nih.gov/)
- [Genetics Home Reference](https://ghr.nlm.nih.gov/)
NIH genetic and rare disease info[edit source]
Cataract, congenital, with microcornea or slight microphthalmia is a rare disease.
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