Kjer's optic neuropathy: Difference between revisions
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{{Infobox medical condition | |||
| name = Kjer's optic neuropathy | |||
| synonyms = [[Autosomal dominant optic atrophy]], [[DOA]], [[OPA1-related optic atrophy]] | |||
| field = [[Ophthalmology]], [[Neurology]] | |||
| symptoms = [[Vision loss]], [[Color vision deficiency]], [[Central scotoma]] | |||
| complications = [[Blindness]], [[Visual impairment]] | |||
| onset = Childhood | |||
| duration = Progressive | |||
| types = | |||
| causes = [[Genetic mutation]] in the [[OPA1 gene]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[Ophthalmic examination]] | |||
| differential = [[Leber's hereditary optic neuropathy]], [[Multiple sclerosis]], [[Nutritional optic neuropathy]] | |||
| prevention = Genetic counseling | |||
| treatment = No specific treatment, supportive care | |||
| medication = | |||
| prognosis = Variable, often leads to significant visual impairment | |||
| frequency = 1 in 50,000 | |||
}} | |||
'''Kjer's optic neuropathy''' is a rare, inherited disorder that primarily affects the eyes, leading to vision loss. This condition is characterized by the onset of visual impairment in early childhood, which is typically severe by the second decade of life. Most affected individuals are legally blind by mid-adulthood. Despite severe vision loss, other eye-related symptoms are typically mild and most people with Kjer's optic neuropathy do not experience pain or discomfort in their eyes. | '''Kjer's optic neuropathy''' is a rare, inherited disorder that primarily affects the eyes, leading to vision loss. This condition is characterized by the onset of visual impairment in early childhood, which is typically severe by the second decade of life. Most affected individuals are legally blind by mid-adulthood. Despite severe vision loss, other eye-related symptoms are typically mild and most people with Kjer's optic neuropathy do not experience pain or discomfort in their eyes. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The primary symptom of Kjer's optic neuropathy is vision loss, which begins in early childhood. This vision loss is progressive, meaning it worsens over time. By the second decade of life, most individuals with this condition have severe vision loss. Despite this, other symptoms related to the eyes are typically mild. Most individuals do not experience pain or discomfort in their eyes. | The primary symptom of Kjer's optic neuropathy is vision loss, which begins in early childhood. This vision loss is progressive, meaning it worsens over time. By the second decade of life, most individuals with this condition have severe vision loss. Despite this, other symptoms related to the eyes are typically mild. Most individuals do not experience pain or discomfort in their eyes. | ||
== Causes == | == Causes == | ||
Kjer's optic neuropathy is caused by mutations in the [[OPA1]] gene. This gene provides instructions for making a protein that is found in cells throughout the body, including cells in the eye. The OPA1 protein is involved in maintaining the structure and function of mitochondria, which are the energy-producing centers within cells. Mutations in the OPA1 gene disrupt the function of the OPA1 protein, leading to the vision loss seen in Kjer's optic neuropathy. | Kjer's optic neuropathy is caused by mutations in the [[OPA1]] gene. This gene provides instructions for making a protein that is found in cells throughout the body, including cells in the eye. The OPA1 protein is involved in maintaining the structure and function of mitochondria, which are the energy-producing centers within cells. Mutations in the OPA1 gene disrupt the function of the OPA1 protein, leading to the vision loss seen in Kjer's optic neuropathy. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Kjer's optic neuropathy is based on the presence of characteristic clinical features, including early-onset, progressive vision loss. Genetic testing can confirm the diagnosis by identifying a mutation in the OPA1 gene. | The diagnosis of Kjer's optic neuropathy is based on the presence of characteristic clinical features, including early-onset, progressive vision loss. Genetic testing can confirm the diagnosis by identifying a mutation in the OPA1 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Kjer's optic neuropathy. Treatment is focused on managing symptoms and improving quality of life. This may include the use of low-vision aids, such as magnifying glasses and large-print materials. | There is currently no cure for Kjer's optic neuropathy. Treatment is focused on managing symptoms and improving quality of life. This may include the use of low-vision aids, such as magnifying glasses and large-print materials. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Kjer's optic neuropathy varies. Most individuals experience severe vision loss by the second decade of life and are legally blind by mid-adulthood. However, other eye-related symptoms are typically mild and most individuals do not experience pain or discomfort in their eyes. | The prognosis for individuals with Kjer's optic neuropathy varies. Most individuals experience severe vision loss by the second decade of life and are legally blind by mid-adulthood. However, other eye-related symptoms are typically mild and most individuals do not experience pain or discomfort in their eyes. | ||
== See Also == | == See Also == | ||
* [[Optic neuropathy]] | * [[Optic neuropathy]] | ||
Latest revision as of 05:51, 4 April 2025
| Kjer's optic neuropathy | |
|---|---|
| Synonyms | Autosomal dominant optic atrophy, DOA, OPA1-related optic atrophy |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Vision loss, Color vision deficiency, Central scotoma |
| Complications | Blindness, Visual impairment |
| Onset | Childhood |
| Duration | Progressive |
| Types | |
| Causes | Genetic mutation in the OPA1 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, Ophthalmic examination |
| Differential diagnosis | Leber's hereditary optic neuropathy, Multiple sclerosis, Nutritional optic neuropathy |
| Prevention | Genetic counseling |
| Treatment | No specific treatment, supportive care |
| Medication | |
| Prognosis | Variable, often leads to significant visual impairment |
| Frequency | 1 in 50,000 |
| Deaths | N/A |
Kjer's optic neuropathy is a rare, inherited disorder that primarily affects the eyes, leading to vision loss. This condition is characterized by the onset of visual impairment in early childhood, which is typically severe by the second decade of life. Most affected individuals are legally blind by mid-adulthood. Despite severe vision loss, other eye-related symptoms are typically mild and most people with Kjer's optic neuropathy do not experience pain or discomfort in their eyes.
Signs and Symptoms[edit]
The primary symptom of Kjer's optic neuropathy is vision loss, which begins in early childhood. This vision loss is progressive, meaning it worsens over time. By the second decade of life, most individuals with this condition have severe vision loss. Despite this, other symptoms related to the eyes are typically mild. Most individuals do not experience pain or discomfort in their eyes.
Causes[edit]
Kjer's optic neuropathy is caused by mutations in the OPA1 gene. This gene provides instructions for making a protein that is found in cells throughout the body, including cells in the eye. The OPA1 protein is involved in maintaining the structure and function of mitochondria, which are the energy-producing centers within cells. Mutations in the OPA1 gene disrupt the function of the OPA1 protein, leading to the vision loss seen in Kjer's optic neuropathy.
Diagnosis[edit]
The diagnosis of Kjer's optic neuropathy is based on the presence of characteristic clinical features, including early-onset, progressive vision loss. Genetic testing can confirm the diagnosis by identifying a mutation in the OPA1 gene.
Treatment[edit]
There is currently no cure for Kjer's optic neuropathy. Treatment is focused on managing symptoms and improving quality of life. This may include the use of low-vision aids, such as magnifying glasses and large-print materials.
Prognosis[edit]
The prognosis for individuals with Kjer's optic neuropathy varies. Most individuals experience severe vision loss by the second decade of life and are legally blind by mid-adulthood. However, other eye-related symptoms are typically mild and most individuals do not experience pain or discomfort in their eyes.
See Also[edit]
| Mitochondrial diseases | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
see also mitochondrial proteins
|
