Congenital hereditary endothelial dystrophy: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Congenital hereditary endothelial dystrophy | |||
| image = [[File:Congenital_hereditary_endothelial_dystrophy_1.JPEG|250px]] | |||
| caption = Slit lamp image showing corneal clouding in congenital hereditary endothelial dystrophy | |||
| field = [[Ophthalmology]] | |||
| symptoms = [[Corneal clouding]], [[vision impairment]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = Genetic mutations in [[SLC4A11]] or [[COL8A2]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Slit lamp examination]], [[genetic testing]] | |||
| differential = [[Congenital glaucoma]], [[Peters anomaly]] | |||
| treatment = [[Corneal transplantation]], [[penetrating keratoplasty]] | |||
| frequency = Rare | |||
}} | |||
'''Congenital Hereditary Endothelial Dystrophy''' (CHED) is a rare genetic disorder that primarily affects the cornea. It is characterized by a cloudy cornea present at birth or shortly thereafter, and can lead to significant visual impairment. | '''Congenital Hereditary Endothelial Dystrophy''' (CHED) is a rare genetic disorder that primarily affects the cornea. It is characterized by a cloudy cornea present at birth or shortly thereafter, and can lead to significant visual impairment. | ||
== Symptoms == | == Symptoms == | ||
The primary symptom of CHED is a cloudy cornea, which can lead to blurred vision or even blindness. Other symptoms may include nystagmus (involuntary eye movement), photophobia (sensitivity to light), and epiphora (excessive tearing). | The primary symptom of CHED is a cloudy cornea, which can lead to blurred vision or even blindness. Other symptoms may include nystagmus (involuntary eye movement), photophobia (sensitivity to light), and epiphora (excessive tearing). | ||
== Causes == | == Causes == | ||
CHED is caused by mutations in the SLC4A11 gene. This gene provides instructions for making a protein that is found in the cornea, where it plays a role in maintaining the cornea's transparency and thickness. Mutations in the SLC4A11 gene disrupt the function of this protein, leading to the corneal abnormalities seen in CHED. | CHED is caused by mutations in the SLC4A11 gene. This gene provides instructions for making a protein that is found in the cornea, where it plays a role in maintaining the cornea's transparency and thickness. Mutations in the SLC4A11 gene disrupt the function of this protein, leading to the corneal abnormalities seen in CHED. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of CHED is based on the clinical features, including the characteristic cloudy cornea. Genetic testing can confirm the diagnosis by identifying a mutation in the SLC4A11 gene. | Diagnosis of CHED is based on the clinical features, including the characteristic cloudy cornea. Genetic testing can confirm the diagnosis by identifying a mutation in the SLC4A11 gene. | ||
== Treatment == | == Treatment == | ||
Treatment for CHED is primarily surgical, with corneal transplantation being the most common procedure. This can significantly improve vision in individuals with CHED. | Treatment for CHED is primarily surgical, with corneal transplantation being the most common procedure. This can significantly improve vision in individuals with CHED. | ||
== See also == | == See also == | ||
* [[Cornea]] | * [[Cornea]] | ||
| Line 19: | Line 30: | ||
* [[SLC4A11 gene]] | * [[SLC4A11 gene]] | ||
* [[Corneal transplantation]] | * [[Corneal transplantation]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Eye disorders]] | [[Category:Eye disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 02:27, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Congenital hereditary endothelial dystrophy | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Corneal clouding, vision impairment |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations in SLC4A11 or COL8A2 |
| Risks | Family history of the condition |
| Diagnosis | Slit lamp examination, genetic testing |
| Differential diagnosis | Congenital glaucoma, Peters anomaly |
| Prevention | N/A |
| Treatment | Corneal transplantation, penetrating keratoplasty |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | N/A |
Congenital Hereditary Endothelial Dystrophy (CHED) is a rare genetic disorder that primarily affects the cornea. It is characterized by a cloudy cornea present at birth or shortly thereafter, and can lead to significant visual impairment.
Symptoms[edit]
The primary symptom of CHED is a cloudy cornea, which can lead to blurred vision or even blindness. Other symptoms may include nystagmus (involuntary eye movement), photophobia (sensitivity to light), and epiphora (excessive tearing).
Causes[edit]
CHED is caused by mutations in the SLC4A11 gene. This gene provides instructions for making a protein that is found in the cornea, where it plays a role in maintaining the cornea's transparency and thickness. Mutations in the SLC4A11 gene disrupt the function of this protein, leading to the corneal abnormalities seen in CHED.
Diagnosis[edit]
Diagnosis of CHED is based on the clinical features, including the characteristic cloudy cornea. Genetic testing can confirm the diagnosis by identifying a mutation in the SLC4A11 gene.
Treatment[edit]
Treatment for CHED is primarily surgical, with corneal transplantation being the most common procedure. This can significantly improve vision in individuals with CHED.
See also[edit]
References[edit]
<references />
