X-linked endothelial corneal dystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = X-linked endothelial corneal dystrophy | |||
| synonyms = XECD | |||
| image = | |||
| caption = | |||
| field = [[Ophthalmology]] | |||
| symptoms = [[Corneal edema]], [[vision impairment]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Genetic mutation in the [[COL4A5]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Slit-lamp examination]], [[genetic testing]] | |||
| differential = [[Fuchs' dystrophy]], [[posterior polymorphous corneal dystrophy]] | |||
| treatment = [[Corneal transplantation]], [[contact lenses]] | |||
| prognosis = Variable, may lead to significant vision loss | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare genetic disorder affecting the cornea}} | {{Short description|A rare genetic disorder affecting the cornea}} | ||
{{Medical condition (new)}} | {{Medical condition (new)}} | ||
'''X-linked endothelial corneal dystrophy''' (XECD) is a rare [[genetic disorder]] that affects the [[cornea]], the transparent front part of the [[eye]]. This condition is characterized by abnormalities in the [[endothelium]], the innermost layer of the cornea, leading to [[corneal edema]] and vision impairment. | '''X-linked endothelial corneal dystrophy''' (XECD) is a rare [[genetic disorder]] that affects the [[cornea]], the transparent front part of the [[eye]]. This condition is characterized by abnormalities in the [[endothelium]], the innermost layer of the cornea, leading to [[corneal edema]] and vision impairment. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The corneal endothelium is responsible for maintaining corneal transparency by regulating fluid and solute transport between the [[aqueous humor]] and the [[stroma]]. In X-linked endothelial corneal dystrophy, mutations in the genes responsible for endothelial cell function lead to dysfunction and degeneration of these cells. This results in an imbalance of fluid regulation, causing corneal swelling and loss of transparency. | The corneal endothelium is responsible for maintaining corneal transparency by regulating fluid and solute transport between the [[aqueous humor]] and the [[stroma]]. In X-linked endothelial corneal dystrophy, mutations in the genes responsible for endothelial cell function lead to dysfunction and degeneration of these cells. This results in an imbalance of fluid regulation, causing corneal swelling and loss of transparency. | ||
==Genetics== | ==Genetics== | ||
XECD is inherited in an [[X-linked recessive]] pattern, meaning the defective gene is located on the [[X chromosome]]. Males, having only one X chromosome, are more severely affected, while females, with two X chromosomes, may be carriers and exhibit milder symptoms. The specific gene mutations associated with XECD have been identified in some cases, but the genetic basis of the disorder is not fully understood. | XECD is inherited in an [[X-linked recessive]] pattern, meaning the defective gene is located on the [[X chromosome]]. Males, having only one X chromosome, are more severely affected, while females, with two X chromosomes, may be carriers and exhibit milder symptoms. The specific gene mutations associated with XECD have been identified in some cases, but the genetic basis of the disorder is not fully understood. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with X-linked endothelial corneal dystrophy typically present with symptoms in early childhood. Common clinical features include: | Individuals with X-linked endothelial corneal dystrophy typically present with symptoms in early childhood. Common clinical features include: | ||
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* [[Blurred vision]] | * [[Blurred vision]] | ||
* [[Corneal opacification]] | * [[Corneal opacification]] | ||
The severity of symptoms can vary, with some individuals experiencing significant vision impairment, while others may have only mild symptoms. | The severity of symptoms can vary, with some individuals experiencing significant vision impairment, while others may have only mild symptoms. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of XECD is based on clinical examination and family history. [[Slit-lamp examination]] can reveal characteristic changes in the corneal endothelium. Genetic testing may be used to confirm the diagnosis by identifying mutations in the relevant genes. | Diagnosis of XECD is based on clinical examination and family history. [[Slit-lamp examination]] can reveal characteristic changes in the corneal endothelium. Genetic testing may be used to confirm the diagnosis by identifying mutations in the relevant genes. | ||
==Management== | ==Management== | ||
There is currently no cure for X-linked endothelial corneal dystrophy. Management focuses on alleviating symptoms and preserving vision. Treatment options may include: | There is currently no cure for X-linked endothelial corneal dystrophy. Management focuses on alleviating symptoms and preserving vision. Treatment options may include: | ||
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* [[Contact lenses]] to improve vision | * [[Contact lenses]] to improve vision | ||
* [[Corneal transplantation]] in severe cases | * [[Corneal transplantation]] in severe cases | ||
Regular monitoring by an [[ophthalmologist]] is essential to manage the condition effectively. | Regular monitoring by an [[ophthalmologist]] is essential to manage the condition effectively. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with XECD varies depending on the severity of the condition. Early diagnosis and appropriate management can help maintain vision and improve quality of life. | The prognosis for individuals with XECD varies depending on the severity of the condition. Early diagnosis and appropriate management can help maintain vision and improve quality of life. | ||
==Related pages== | ==Related pages== | ||
* [[Corneal dystrophy]] | * [[Corneal dystrophy]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Ophthalmology]] | * [[Ophthalmology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 03:59, 4 April 2025
| X-linked endothelial corneal dystrophy | |
|---|---|
| Synonyms | XECD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Corneal edema, vision impairment |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the COL4A5 gene |
| Risks | Family history of the condition |
| Diagnosis | Slit-lamp examination, genetic testing |
| Differential diagnosis | Fuchs' dystrophy, posterior polymorphous corneal dystrophy |
| Prevention | N/A |
| Treatment | Corneal transplantation, contact lenses |
| Medication | N/A |
| Prognosis | Variable, may lead to significant vision loss |
| Frequency | Rare |
| Deaths | N/A |
A rare genetic disorder affecting the cornea
Template:Medical condition (new)
X-linked endothelial corneal dystrophy (XECD) is a rare genetic disorder that affects the cornea, the transparent front part of the eye. This condition is characterized by abnormalities in the endothelium, the innermost layer of the cornea, leading to corneal edema and vision impairment.
Pathophysiology[edit]
The corneal endothelium is responsible for maintaining corneal transparency by regulating fluid and solute transport between the aqueous humor and the stroma. In X-linked endothelial corneal dystrophy, mutations in the genes responsible for endothelial cell function lead to dysfunction and degeneration of these cells. This results in an imbalance of fluid regulation, causing corneal swelling and loss of transparency.
Genetics[edit]
XECD is inherited in an X-linked recessive pattern, meaning the defective gene is located on the X chromosome. Males, having only one X chromosome, are more severely affected, while females, with two X chromosomes, may be carriers and exhibit milder symptoms. The specific gene mutations associated with XECD have been identified in some cases, but the genetic basis of the disorder is not fully understood.
Clinical Features[edit]
Individuals with X-linked endothelial corneal dystrophy typically present with symptoms in early childhood. Common clinical features include:
- Corneal edema
- Photophobia (sensitivity to light)
- Blurred vision
- Corneal opacification
The severity of symptoms can vary, with some individuals experiencing significant vision impairment, while others may have only mild symptoms.
Diagnosis[edit]
Diagnosis of XECD is based on clinical examination and family history. Slit-lamp examination can reveal characteristic changes in the corneal endothelium. Genetic testing may be used to confirm the diagnosis by identifying mutations in the relevant genes.
Management[edit]
There is currently no cure for X-linked endothelial corneal dystrophy. Management focuses on alleviating symptoms and preserving vision. Treatment options may include:
- Hypertonic saline eye drops to reduce corneal edema
- Contact lenses to improve vision
- Corneal transplantation in severe cases
Regular monitoring by an ophthalmologist is essential to manage the condition effectively.
Prognosis[edit]
The prognosis for individuals with XECD varies depending on the severity of the condition. Early diagnosis and appropriate management can help maintain vision and improve quality of life.
