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== Cornea Plana == | |||
[[File:Autosomal_recessive_-_en.svg|thumb|right|Diagram of autosomal recessive inheritance pattern.]] | |||
'''Cornea plana''' is a rare congenital disorder characterized by a flattened corneal curvature. This condition can lead to significant refractive errors and visual impairment. Cornea plana can be classified into two types based on its genetic inheritance pattern: autosomal dominant and autosomal recessive. | |||
== | == Pathophysiology == | ||
The | The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. In cornea plana, the normal convex curvature of the cornea is reduced, resulting in a flatter surface. This alteration in shape affects the eye's refractive power, often leading to [[hyperopia]] (farsightedness) and other visual disturbances. | ||
== Genetics == | |||
Cornea plana can be inherited in an autosomal recessive or autosomal dominant manner. The autosomal recessive form is more severe and is associated with mutations in the [[KERA]] gene, which encodes keratocan, a protein essential for maintaining corneal structure and transparency. | |||
=== Autosomal Recessive Cornea Plana === | |||
In the autosomal recessive form, both parents must carry one copy of the mutated gene, and the affected individual inherits two copies of the mutation. This form is often associated with additional ocular abnormalities, such as [[sclerocornea]] and [[microphthalmia]]. | |||
== Clinical Features == | |||
Patients with cornea plana typically present with: | |||
* Reduced visual acuity | * Reduced visual acuity | ||
* | * Hyperopia | ||
* | * Astigmatism | ||
* | * Increased risk of [[glaucoma]] | ||
In severe cases, patients may also exhibit [[nystagmus]] and [[strabismus]]. | |||
== | == Diagnosis == | ||
Diagnosis of cornea plana is primarily clinical, based on the characteristic flattening of the cornea observed during an eye examination. [[Keratometry]] and [[corneal topography]] are used to measure the corneal curvature and confirm the diagnosis. Genetic testing can identify mutations in the KERA gene, particularly in the autosomal recessive form. | |||
== | == Management == | ||
Management of cornea plana focuses on correcting refractive errors and monitoring for complications. Options include: | |||
* Prescription of corrective lenses (glasses or contact lenses) | |||
* Regular monitoring for glaucoma | |||
* Surgical interventions, such as [[corneal transplantation]], may be considered in severe cases. | |||
== | == Related Pages == | ||
* [[ | * [[Cornea]] | ||
* [[ | * [[Refractive error]] | ||
* [[ | * [[Genetic disorders]] | ||
[[Category: | [[Category:Genetic disorders of the eye]] | ||
[[Category: | [[Category:Corneal diseases]] | ||
Revision as of 06:10, 16 February 2025
Cornea Plana
Cornea plana is a rare congenital disorder characterized by a flattened corneal curvature. This condition can lead to significant refractive errors and visual impairment. Cornea plana can be classified into two types based on its genetic inheritance pattern: autosomal dominant and autosomal recessive.
Pathophysiology
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. In cornea plana, the normal convex curvature of the cornea is reduced, resulting in a flatter surface. This alteration in shape affects the eye's refractive power, often leading to hyperopia (farsightedness) and other visual disturbances.
Genetics
Cornea plana can be inherited in an autosomal recessive or autosomal dominant manner. The autosomal recessive form is more severe and is associated with mutations in the KERA gene, which encodes keratocan, a protein essential for maintaining corneal structure and transparency.
Autosomal Recessive Cornea Plana
In the autosomal recessive form, both parents must carry one copy of the mutated gene, and the affected individual inherits two copies of the mutation. This form is often associated with additional ocular abnormalities, such as sclerocornea and microphthalmia.
Clinical Features
Patients with cornea plana typically present with:
- Reduced visual acuity
- Hyperopia
- Astigmatism
- Increased risk of glaucoma
In severe cases, patients may also exhibit nystagmus and strabismus.
Diagnosis
Diagnosis of cornea plana is primarily clinical, based on the characteristic flattening of the cornea observed during an eye examination. Keratometry and corneal topography are used to measure the corneal curvature and confirm the diagnosis. Genetic testing can identify mutations in the KERA gene, particularly in the autosomal recessive form.
Management
Management of cornea plana focuses on correcting refractive errors and monitoring for complications. Options include:
- Prescription of corrective lenses (glasses or contact lenses)
- Regular monitoring for glaucoma
- Surgical interventions, such as corneal transplantation, may be considered in severe cases.
