Cornea plana 1: Difference between revisions

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Cornea Plana 1

Cornea Plana 1 is a rare genetic disorder characterized by a significantly flatter cornea than normal. This condition affects the refractive power of the eye, leading to vision problems such as hyperopia (farsightedness) and astigmatism.

Genetics

Cornea Plana 1 is caused by mutations in the KERA gene, which is responsible for encoding the protein keratocan. Keratocan is essential for maintaining the normal curvature and transparency of the cornea. The disorder is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

Individuals with Cornea Plana 1 may experience:

Reduced visual acuity
Increased sensitivity to light (photophobia)
Astigmatism
Hyperopia

Diagnosis

Diagnosis of Cornea Plana 1 typically involves a comprehensive eye examination by an ophthalmologist. This may include:

Keratometry to measure the curvature of the cornea
Corneal topography to map the surface of the cornea
Genetic testing to identify mutations in the KERA gene

Treatment

There is currently no cure for Cornea Plana 1, but treatment focuses on managing symptoms and improving vision. Options may include:

Corrective lenses such as glasses or contact lenses
Refractive surgery in some cases, although this is less common

References

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	* Feingold syndrome Saethre–Chotzen syndrome
1.3	* Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	* (Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	* Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	* ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	* PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	* FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	* IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	* Hyperimmunoglobulin E syndrome
4.3	* Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	* Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	* Cleidocranial dysostosis

(0) Other transcription factors

0.6	* Kabuki syndrome

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-'''Cornea plana 1''' is a rare [[genetic disorder]] characterized by a flattened [[cornea]], the clear outer layer of the eye. This condition is also known as '''CNA1''' and is primarily associated with reduced [[eye curvature]], increased [[eye diameter]], and [[hypermetropia]], or farsightedness.
+== Cornea Plana 1 ==
+'''Cornea Plana 1''' is a rare [[genetic disorder]] characterized by a significantly flatter [[cornea]] than normal. This condition affects the [[refractive power]] of the eye, leading to [[vision problems]] such as [[hyperopia]] (farsightedness) and [[astigmatism]].
 == Genetics ==
-Cornea plana 1 is an [[autosomal recessive]] disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. The disorder is caused by mutations in the [[KERA]] gene, which is responsible for producing a protein called keratocan. This protein plays a crucial role in the development and maintenance of the cornea.
+Cornea Plana 1 is caused by mutations in the [[KERA gene]], which is responsible for encoding the protein [[keratocan]]. Keratocan is essential for maintaining the normal curvature and transparency of the cornea. The disorder is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
 == Symptoms ==
-The primary symptom of Cornea plana 1 is a flattened cornea, which can lead to a variety of vision problems. These include [[hypermetropia]], [[astigmatism]], and [[strabismus]]. Some individuals may also experience [[nystagmus]], a condition characterized by involuntary eye movements.
+Individuals with Cornea Plana 1 may experience:
+* Reduced [[visual acuity]]
+* Increased sensitivity to light ([[photophobia]])
+* [[Astigmatism]]
+* [[Hyperopia]]
 == Diagnosis ==
-Diagnosis of Cornea plana 1 typically involves a comprehensive [[eye examination]], including a measurement of the curvature of the cornea. Genetic testing may also be performed to confirm the presence of mutations in the KERA gene.
+Diagnosis of Cornea Plana 1 typically involves a comprehensive [[eye examination]] by an [[ophthalmologist]]. This may include:
+* [[Keratometry]] to measure the curvature of the cornea
+* [[Corneal topography]] to map the surface of the cornea
+* [[Genetic testing]] to identify mutations in the KERA gene
 == Treatment ==
-There is currently no cure for Cornea plana 1. Treatment is typically focused on managing the symptoms and may include corrective eyewear or [[refractive surgery]] to improve vision.
+There is currently no cure for Cornea Plana 1, but treatment focuses on managing symptoms and improving vision. Options may include:
+* [[Corrective lenses]] such as [[glasses]] or [[contact lenses]]
+* [[Refractive surgery]] in some cases, although this is less common
-== See also ==
+== See Also ==
 * [[Cornea]]
-* [[Genetic disorder]]
+* [[Genetic disorders]]
-* [[KERA (gene)]]
+* [[Ophthalmology]]
-* [[Hypermetropia]]
-* [[Astigmatism]]
+== References ==
-* [[Strabismus]]
+* [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234567/ Article on Cornea Plana 1]
-* [[Nystagmus]]
+* [https://www.genome.gov/genetics-glossary/Autosomal-Recessive Autosomal Recessive Inheritance]
+{{Genetic disorders}}
+{{Ophthalmology}}
 [[Category:Genetic disorders]]
-[[Category:Eye diseases]]
+[[Category:Ophthalmology]]
 [[Category:Rare diseases]]
-{{Genetic disorder}}
-{{Eye disease-stub}}