Macular corneal dystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = Macular corneal dystrophy | |||
| image = [[File:Macular_corneal_dystrophy_hale_colloidal_iron_stain.JPEG|250px]] | |||
| image_size = 250px | |||
| alt = Histological image of macular corneal dystrophy | |||
| caption = Histological image of macular corneal dystrophy using Hale's colloidal iron stain | |||
| field = [[Ophthalmology]] | |||
| symptoms = [[Vision impairment]], [[corneal clouding]], [[photophobia]] | |||
| onset = Usually in [[childhood]] or [[adolescence]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic disorder]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Slit lamp]] examination, [[genetic testing]] | |||
| differential = Other [[corneal dystrophies]], [[Keratoconus]] | |||
| treatment = [[Corneal transplant]], [[phototherapeutic keratectomy]] | |||
| prognosis = Variable, may lead to significant [[vision loss]] | |||
| frequency = Rare | |||
}} | |||
[[File:Macular_corneal_dystrophy_lamp_exam.JPEG|Macular corneal dystrophy - Lamp exam|thumb|left]] | |||
'''Macular corneal dystrophy''' is a rare, genetic eye disorder that primarily affects the [[cornea]], the clear front surface of the eye. This condition is characterized by the accumulation of abnormal deposits in the cornea, leading to progressive vision loss. | '''Macular corneal dystrophy''' is a rare, genetic eye disorder that primarily affects the [[cornea]], the clear front surface of the eye. This condition is characterized by the accumulation of abnormal deposits in the cornea, leading to progressive vision loss. | ||
==Etiology== | ==Etiology== | ||
Macular corneal dystrophy is caused by mutations in the [[CHST6]] gene. This gene provides instructions for making an enzyme called corneal N-acetylglucosamine-6-sulfotransferase, which is involved in the production of [[keratan sulfate]]. Keratan sulfate is a type of complex sugar molecule that is part of the cornea's structure. Mutations in the CHST6 gene disrupt the normal production of keratan sulfate, leading to the accumulation of abnormal deposits in the cornea. | Macular corneal dystrophy is caused by mutations in the [[CHST6]] gene. This gene provides instructions for making an enzyme called corneal N-acetylglucosamine-6-sulfotransferase, which is involved in the production of [[keratan sulfate]]. Keratan sulfate is a type of complex sugar molecule that is part of the cornea's structure. Mutations in the CHST6 gene disrupt the normal production of keratan sulfate, leading to the accumulation of abnormal deposits in the cornea. | ||
==Symptoms== | ==Symptoms== | ||
The primary symptom of macular corneal dystrophy is progressive vision loss, which usually begins in early childhood. Other symptoms may include [[photophobia]] (sensitivity to light), [[corneal erosion]], and recurrent [[corneal ulcers]]. In some cases, the condition may also cause pain and discomfort in the eyes. | The primary symptom of macular corneal dystrophy is progressive vision loss, which usually begins in early childhood. Other symptoms may include [[photophobia]] (sensitivity to light), [[corneal erosion]], and recurrent [[corneal ulcers]]. In some cases, the condition may also cause pain and discomfort in the eyes. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of macular corneal dystrophy is typically based on a thorough eye examination, including a [[slit lamp examination]] and [[corneal pachymetry]]. Genetic testing may also be performed to confirm the diagnosis and identify the specific mutation in the CHST6 gene. | Diagnosis of macular corneal dystrophy is typically based on a thorough eye examination, including a [[slit lamp examination]] and [[corneal pachymetry]]. Genetic testing may also be performed to confirm the diagnosis and identify the specific mutation in the CHST6 gene. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for macular corneal dystrophy. Treatment is primarily aimed at managing symptoms and may include the use of lubricating eye drops or ointments, and in severe cases, [[corneal transplantation]] may be considered. | There is currently no cure for macular corneal dystrophy. Treatment is primarily aimed at managing symptoms and may include the use of lubricating eye drops or ointments, and in severe cases, [[corneal transplantation]] may be considered. | ||
==Epidemiology== | ==Epidemiology== | ||
Macular corneal dystrophy is a rare condition, with an estimated prevalence of 1 in 100,000 individuals worldwide. It affects both males and females equally and has been reported in many different ethnic groups. | Macular corneal dystrophy is a rare condition, with an estimated prevalence of 1 in 100,000 individuals worldwide. It affects both males and females equally and has been reported in many different ethnic groups. | ||
==See also== | ==See also== | ||
* [[Corneal dystrophy]] | * [[Corneal dystrophy]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Eye disease]] | * [[Eye disease]] | ||
[[Category:Eye diseases]] | [[Category:Eye diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
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{{Genetics-stub}} | {{Genetics-stub}} | ||
{{Rare-diseases-stub}} | {{Rare-diseases-stub}} | ||
Latest revision as of 05:53, 9 April 2025
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| Macular corneal dystrophy | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Vision impairment, corneal clouding, photophobia |
| Complications | N/A |
| Onset | Usually in childhood or adolescence |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic disorder |
| Risks | Family history |
| Diagnosis | Slit lamp examination, genetic testing |
| Differential diagnosis | Other corneal dystrophies, Keratoconus |
| Prevention | N/A |
| Treatment | Corneal transplant, phototherapeutic keratectomy |
| Medication | N/A |
| Prognosis | Variable, may lead to significant vision loss |
| Frequency | Rare |
| Deaths | N/A |
Macular corneal dystrophy is a rare, genetic eye disorder that primarily affects the cornea, the clear front surface of the eye. This condition is characterized by the accumulation of abnormal deposits in the cornea, leading to progressive vision loss.
Etiology[edit]
Macular corneal dystrophy is caused by mutations in the CHST6 gene. This gene provides instructions for making an enzyme called corneal N-acetylglucosamine-6-sulfotransferase, which is involved in the production of keratan sulfate. Keratan sulfate is a type of complex sugar molecule that is part of the cornea's structure. Mutations in the CHST6 gene disrupt the normal production of keratan sulfate, leading to the accumulation of abnormal deposits in the cornea.
Symptoms[edit]
The primary symptom of macular corneal dystrophy is progressive vision loss, which usually begins in early childhood. Other symptoms may include photophobia (sensitivity to light), corneal erosion, and recurrent corneal ulcers. In some cases, the condition may also cause pain and discomfort in the eyes.
Diagnosis[edit]
Diagnosis of macular corneal dystrophy is typically based on a thorough eye examination, including a slit lamp examination and corneal pachymetry. Genetic testing may also be performed to confirm the diagnosis and identify the specific mutation in the CHST6 gene.
Treatment[edit]
There is currently no cure for macular corneal dystrophy. Treatment is primarily aimed at managing symptoms and may include the use of lubricating eye drops or ointments, and in severe cases, corneal transplantation may be considered.
Epidemiology[edit]
Macular corneal dystrophy is a rare condition, with an estimated prevalence of 1 in 100,000 individuals worldwide. It affects both males and females equally and has been reported in many different ethnic groups.
See also[edit]
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