Cornea plana 2 - Revision history

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2025-04-05T13:36:33Z

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← Older revision		Revision as of 13:36, 5 April 2025
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			{{SI}}
			{{Infobox medical condition
			\| name = Cornea plana 2
			\| image = [[File:Autosomal_recessive_-_en.svg\|200px]]
			\| caption = Cornea plana 2 is inherited in an [[autosomal recessive]] pattern.
			\| synonyms = Flat cornea 2
			\| field = [[Ophthalmology]]
			\| symptoms = [[Reduced visual acuity]], [[hyperopia]], [[astigmatism]], [[glaucoma]]
			\| complications = [[Keratoconus]], [[cataracts]]
			\| onset = Congenital
			\| duration = Lifelong
			\| causes = Mutations in the [[KERA]] gene
			\| risks = Family history of the condition
			\| diagnosis = [[Genetic testing]], [[slit-lamp examination]]
			\| differential = [[Corneal dystrophy]], [[keratoconus]]
			\| prevention = None
			\| treatment = [[Corrective lenses]], [[surgery]]
			\| prognosis = Variable, depending on severity
			\| frequency = Rare
			}}
	== Cornea Plana ==		== Cornea Plana ==
			[[File:Autosomal_recessive_-_en.svg\|left\|thumb\|Diagram of autosomal recessive inheritance pattern.]]
	[[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.		'''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 ==		== 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.		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 ==		== 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.		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 ===		=== 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]].		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 ==		== Clinical Features ==
	Patients with cornea plana typically present with:		Patients with cornea plana typically present with:
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	* Astigmatism		* Astigmatism
	* Increased risk of [[glaucoma]]		* Increased risk of [[glaucoma]]

	In severe cases, patients may also exhibit [[nystagmus]] and [[strabismus]].		In severe cases, patients may also exhibit [[nystagmus]] and [[strabismus]].

	== Diagnosis ==		== 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.		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 ==
	Management of cornea plana focuses on correcting refractive errors and monitoring for complications. Options include:		Management of cornea plana focuses on correcting refractive errors and monitoring for complications. Options include:
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	* Regular monitoring for glaucoma		* Regular monitoring for glaucoma
	* Surgical interventions, such as [[corneal transplantation]], may be considered in severe cases.		* Surgical interventions, such as [[corneal transplantation]], may be considered in severe cases.
			== See also ==
	== ~~Related Pages~~ ==
	* [[Cornea]]		* [[Cornea]]
	* [[Refractive error]]		* [[Refractive error]]
	* [[Genetic disorders]]		* [[Genetic disorders]]

	[[Category:Genetic disorders of the eye]]		[[Category:Genetic disorders of the eye]]
	[[Category:Corneal diseases]]		[[Category:Corneal diseases]]

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2025-02-16T06:10:13Z

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← Older revision		Revision as of 06:10, 16 February 2025
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	~~'''~~Cornea Plana 2''' ('''CNA2''') is a rare genetic disorder affecting the [[cornea]], the clear, dome-shaped surface that covers the front of the [[eye]]. This condition is characterized by a flattened cornea, which can lead to reduced visual acuity. Cornea Plana 2 is distinct from Cornea Plana 1 in its genetic cause and inheritance pattern.		== Cornea Plana ==

	~~==Etiology==~~		[[File:Autosomal_recessive_-_en.svg\|thumb\|right\|Diagram of autosomal recessive inheritance pattern.]]
	~~Cornea Plana 2 is caused by mutations in the~~ [[~~KERA]] gene, which encodes for keratocan, a protein that is crucial for the maintenance of corneal structure and transparency~~. ~~The mutations lead to a deficiency or dysfunction of keratocan, resulting in the abnormal development~~ of ~~the cornea~~.

	~~==Genetics==~~		'''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.
	~~The condition~~ is ~~inherited in an [[Autosomal Recessive]] manner~~. This ~~means that an individual must inherit two copies of the mutated gene, one from each parent,~~ to ~~be affected by the disorder~~. ~~Parents of an individual with~~ Cornea ~~Plana 2 typically do not show symptoms of the condition but are carriers of the mutation~~.

	==~~Symptoms~~==		== Pathophysiology ==
	The ~~primary symptom~~ of Cornea Plana 2 is ~~a significantly flattened~~ cornea~~, which can lead to~~:		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
	* ~~[[Astigmatism]]~~		* Hyperopia
	* ~~Hyperopia (farsightedness)~~		* Astigmatism
	* ~~Possible~~ [[~~nystagmus~~]] ~~(involuntary eye movement)~~		* Increased risk of [[glaucoma]]

	~~==Diagnosis==~~		In severe cases, patients may also exhibit [[nystagmus]] and [[strabismus]].
	~~Diagnosis of Cornea Plana 2 involves a comprehensive eye examination~~, ~~including:~~
	* Measurement of corneal curvature
	* Visual acuity tests
	* Examination of the eye's anterior segment using [[~~slit lamp~~]] ~~microscopy~~
	~~Genetic testing can confirm the presence of mutations in the KERA gene~~.

	==~~Treatment~~==		== Diagnosis ==
	~~There~~ is ~~no cure for Cornea Plana 2~~, and ~~treatment focuses on managing symptoms~~ and ~~improving visual function~~. ~~Options may include:~~		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.
	* Prescription glasses or contact lenses to correct refractive errors
	* In severe cases, ~~corneal transplantation may be considered~~

	==~~Prognosis~~==		== Management ==
	~~The prognosis~~ for ~~individuals with Cornea Plana 2 varies~~. ~~While the condition can significantly impact visual acuity, appropriate~~ corrective ~~measures, such as~~ glasses or contact lenses, ~~can help improve vision. Regular follow-up with an ophthalmologist is essential to monitor the condition and adjust treatment~~ as ~~necessary~~.		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.

	==~~See Also~~==		== Related Pages ==
	* [[~~Corneal dystrophy~~]]		* [[Cornea]]
	* [[~~Genetic disorder~~]]		* [[Refractive error]]
	* [[~~Eye examination~~]]		* [[Genetic disorders]]

	[[Category:~~Eye diseases~~]]		[[Category:Genetic disorders of the eye]]
	[[Category:~~Genetic disorders~~]]		[[Category:Corneal diseases]]
	~~{{Medicine-stub}}~~

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2024-03-22T07:53:44Z

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New page

'''Cornea Plana 2''' ('''CNA2''') is a rare genetic disorder affecting the [[cornea]], the clear, dome-shaped surface that covers the front of the [[eye]]. This condition is characterized by a flattened cornea, which can lead to reduced visual acuity. Cornea Plana 2 is distinct from Cornea Plana 1 in its genetic cause and inheritance pattern.

==Etiology==
Cornea Plana 2 is caused by mutations in the [[KERA]] gene, which encodes for keratocan, a protein that is crucial for the maintenance of corneal structure and transparency. The mutations lead to a deficiency or dysfunction of keratocan, resulting in the abnormal development of the cornea.

==Genetics==
The condition is inherited in an [[Autosomal Recessive]] manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Parents of an individual with Cornea Plana 2 typically do not show symptoms of the condition but are carriers of the mutation.

==Symptoms==
The primary symptom of Cornea Plana 2 is a significantly flattened cornea, which can lead to:
* Reduced visual acuity
* [[Astigmatism]]
* Hyperopia (farsightedness)
* Possible [[nystagmus]] (involuntary eye movement)

==Diagnosis==
Diagnosis of Cornea Plana 2 involves a comprehensive eye examination, including:
* Measurement of corneal curvature
* Visual acuity tests
* Examination of the eye's anterior segment using [[slit lamp]] microscopy
Genetic testing can confirm the presence of mutations in the KERA gene.

==Treatment==
There is no cure for Cornea Plana 2, and treatment focuses on managing symptoms and improving visual function. Options may include:
* Prescription glasses or contact lenses to correct refractive errors
* In severe cases, corneal transplantation may be considered

==Prognosis==
The prognosis for individuals with Cornea Plana 2 varies. While the condition can significantly impact visual acuity, appropriate corrective measures, such as glasses or contact lenses, can help improve vision. Regular follow-up with an ophthalmologist is essential to monitor the condition and adjust treatment as necessary.

==See Also==
* [[Corneal dystrophy]]
* [[Genetic disorder]]
* [[Eye examination]]

[[Category:Eye diseases]]
[[Category:Genetic disorders]]
{{Medicine-stub}}