Macular hypoplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Macular hypoplasia | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Autosomal dominant pattern of inheritance | |||
| synonyms = Foveal hypoplasia | |||
| field = [[Ophthalmology]] | |||
| symptoms = Poor [[visual acuity]], [[nystagmus]], [[strabismus]] | |||
| complications = [[Amblyopia]], [[reduced vision]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Genetic mutations, often associated with [[albinism]] | |||
| risks = Family history of genetic conditions | |||
| diagnosis = [[Ophthalmic examination]], [[Optical coherence tomography]] | |||
| differential = [[Retinal dystrophy]], [[Optic nerve hypoplasia]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Low vision aids]], [[vision therapy]] | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
}} | |||
[[File:Autosomal_dominant_-_en.svg|Diagram of autosomal dominant inheritance|thumb|left]] | |||
'''Macular Hypoplasia''' is a medical condition that affects the [[macula]], the part of the [[retina]] responsible for detailed central vision. It is characterized by the underdevelopment or absence of the macula, leading to vision impairment. | '''Macular Hypoplasia''' is a medical condition that affects the [[macula]], the part of the [[retina]] responsible for detailed central vision. It is characterized by the underdevelopment or absence of the macula, leading to vision impairment. | ||
== Causes == | == Causes == | ||
Macular Hypoplasia is often associated with [[Albinism]], a group of inherited disorders characterized by little or no production of the pigment [[melanin]]. The type and amount of melanin your body produces determines the color of your skin, hair, and eyes. Most people with albinism are sensitive to sun exposure and are at increased risk of developing skin cancer. | Macular Hypoplasia is often associated with [[Albinism]], a group of inherited disorders characterized by little or no production of the pigment [[melanin]]. The type and amount of melanin your body produces determines the color of your skin, hair, and eyes. Most people with albinism are sensitive to sun exposure and are at increased risk of developing skin cancer. | ||
== Symptoms == | == Symptoms == | ||
The main symptom of Macular Hypoplasia is decreased central vision. This can range from mild to severe, depending on the degree of hypoplasia. Other symptoms may include [[nystagmus]] (involuntary eye movement), [[strabismus]] (misalignment of the eyes), and [[photophobia]] (sensitivity to light). | The main symptom of Macular Hypoplasia is decreased central vision. This can range from mild to severe, depending on the degree of hypoplasia. Other symptoms may include [[nystagmus]] (involuntary eye movement), [[strabismus]] (misalignment of the eyes), and [[photophobia]] (sensitivity to light). | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Macular Hypoplasia is typically made through a comprehensive eye examination, including a detailed examination of the retina. Additional tests may include [[electroretinography]] (ERG), which measures the electrical responses of various cell types in the retina. | Diagnosis of Macular Hypoplasia is typically made through a comprehensive eye examination, including a detailed examination of the retina. Additional tests may include [[electroretinography]] (ERG), which measures the electrical responses of various cell types in the retina. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Macular Hypoplasia. Treatment is focused on managing symptoms and improving the quality of life for those affected. This may include the use of low vision aids, such as magnifying glasses or electronic devices, and therapies to manage nystagmus and strabismus. | There is currently no cure for Macular Hypoplasia. Treatment is focused on managing symptoms and improving the quality of life for those affected. This may include the use of low vision aids, such as magnifying glasses or electronic devices, and therapies to manage nystagmus and strabismus. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Macular Hypoplasia varies widely and depends on the severity of the condition. Some individuals may have near-normal vision, while others may be legally blind. | The prognosis for individuals with Macular Hypoplasia varies widely and depends on the severity of the condition. Some individuals may have near-normal vision, while others may be legally blind. | ||
== See also == | == See also == | ||
* [[Albinism]] | * [[Albinism]] | ||
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* [[Strabismus]] | * [[Strabismus]] | ||
* [[Photophobia]] | * [[Photophobia]] | ||
[[Category:Eye diseases]] | [[Category:Eye diseases]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
{{Eye-disease-stub}} | {{Eye-disease-stub}} | ||
{{Rare-diseases-stub}} | {{Rare-diseases-stub}} | ||
{{Genetic-disorders-stub}} | {{Genetic-disorders-stub}} | ||
Latest revision as of 05:50, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Macular hypoplasia | |
|---|---|
| |
| Synonyms | Foveal hypoplasia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Poor visual acuity, nystagmus, strabismus |
| Complications | Amblyopia, reduced vision |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations, often associated with albinism |
| Risks | Family history of genetic conditions |
| Diagnosis | Ophthalmic examination, Optical coherence tomography |
| Differential diagnosis | Retinal dystrophy, Optic nerve hypoplasia |
| Prevention | Genetic counseling |
| Treatment | Low vision aids, vision therapy |
| Medication | N/A |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Macular Hypoplasia is a medical condition that affects the macula, the part of the retina responsible for detailed central vision. It is characterized by the underdevelopment or absence of the macula, leading to vision impairment.
Causes[edit]
Macular Hypoplasia is often associated with Albinism, a group of inherited disorders characterized by little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair, and eyes. Most people with albinism are sensitive to sun exposure and are at increased risk of developing skin cancer.
Symptoms[edit]
The main symptom of Macular Hypoplasia is decreased central vision. This can range from mild to severe, depending on the degree of hypoplasia. Other symptoms may include nystagmus (involuntary eye movement), strabismus (misalignment of the eyes), and photophobia (sensitivity to light).
Diagnosis[edit]
Diagnosis of Macular Hypoplasia is typically made through a comprehensive eye examination, including a detailed examination of the retina. Additional tests may include electroretinography (ERG), which measures the electrical responses of various cell types in the retina.
Treatment[edit]
There is currently no cure for Macular Hypoplasia. Treatment is focused on managing symptoms and improving the quality of life for those affected. This may include the use of low vision aids, such as magnifying glasses or electronic devices, and therapies to manage nystagmus and strabismus.
Prognosis[edit]
The prognosis for individuals with Macular Hypoplasia varies widely and depends on the severity of the condition. Some individuals may have near-normal vision, while others may be legally blind.
See also[edit]
This rare disease-related article is a stub. You can help WikiMD by expanding it.
This genetic disorder related article is a stub. You can help WikiMD by expanding it.
