Stargardt disease: Difference between revisions
From WikiMD's Wellness Encyclopedia
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
[[File:Retina-OCT800.png| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Stargardt disease | |||
| image = [[File:Retina-OCT800.png|alt=OCT image of the retina]] | |||
| caption = Optical coherence tomography (OCT) image of the retina | |||
| synonyms = Stargardt macular dystrophy, juvenile macular degeneration | |||
| pronounce = | |||
| specialty = [[Ophthalmology]] | |||
| symptoms = [[Central vision loss]], [[blurry vision]], [[color vision loss]] | |||
| onset = Typically in [[childhood]] or [[adolescence]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic disorder]] | |||
| risks = | |||
| diagnosis = [[Eye examination]], [[genetic testing]] | |||
| differential = [[Age-related macular degeneration]], [[Best disease]], [[Cone-rod dystrophy]] | |||
| treatment = No cure, [[low vision aids]], [[genetic counseling]] | |||
| medication = | |||
| frequency = 1 in 8,000 to 10,000 people | |||
| deaths = | |||
}} | |||
'''Stargardt disease''', also known as '''Stargardt macular dystrophy''', is an [[inherited disorder]] of the [[retina]] that causes progressive [[vision loss]]. It is the most common form of [[juvenile macular degeneration]]. The disease typically manifests in childhood or adolescence, but it can also appear in adulthood. | '''Stargardt disease''', also known as '''Stargardt macular dystrophy''', is an [[inherited disorder]] of the [[retina]] that causes progressive [[vision loss]]. It is the most common form of [[juvenile macular degeneration]]. The disease typically manifests in childhood or adolescence, but it can also appear in adulthood. | ||
== Genetics == | == Genetics == | ||
Stargardt disease is primarily caused by mutations in the [[ABCA4]] gene, which is responsible for the production of a protein involved in the visual cycle. This protein helps transport energy molecules within the [[photoreceptor cells]] of the retina. Mutations in the ABCA4 gene lead to the accumulation of toxic byproducts, which damage the photoreceptor cells and the [[retinal pigment epithelium]] (RPE). | Stargardt disease is primarily caused by mutations in the [[ABCA4]] gene, which is responsible for the production of a protein involved in the visual cycle. This protein helps transport energy molecules within the [[photoreceptor cells]] of the retina. Mutations in the ABCA4 gene lead to the accumulation of toxic byproducts, which damage the photoreceptor cells and the [[retinal pigment epithelium]] (RPE). | ||
== Symptoms == | == Symptoms == | ||
The main symptom of Stargardt disease is a progressive loss of central vision, which is essential for tasks such as reading, driving, and recognizing faces. Other symptoms may include: | The main symptom of Stargardt disease is a progressive loss of central vision, which is essential for tasks such as reading, driving, and recognizing faces. Other symptoms may include: | ||
| Line 12: | Line 28: | ||
* Distorted vision ([[metamorphopsia]]) | * Distorted vision ([[metamorphopsia]]) | ||
* Color vision abnormalities | * Color vision abnormalities | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Stargardt disease typically involves a comprehensive eye examination, including: | Diagnosis of Stargardt disease typically involves a comprehensive eye examination, including: | ||
| Line 21: | Line 36: | ||
* [[Electroretinography]] (ERG) | * [[Electroretinography]] (ERG) | ||
* Genetic testing to identify mutations in the ABCA4 gene | * Genetic testing to identify mutations in the ABCA4 gene | ||
== Treatment == | == Treatment == | ||
Currently, there is no cure for Stargardt disease. However, several approaches are being researched, including: | Currently, there is no cure for Stargardt disease. However, several approaches are being researched, including: | ||
| Line 27: | Line 41: | ||
* Stem cell therapy | * Stem cell therapy | ||
* Pharmacological treatments to slow the progression of the disease | * Pharmacological treatments to slow the progression of the disease | ||
Patients are often advised to wear [[sunglasses]] to protect their eyes from [[ultraviolet light]] and to avoid [[vitamin A]] supplements, which can exacerbate the condition. | Patients are often advised to wear [[sunglasses]] to protect their eyes from [[ultraviolet light]] and to avoid [[vitamin A]] supplements, which can exacerbate the condition. | ||
== Prognosis == | == Prognosis == | ||
The progression of Stargardt disease varies among individuals. While some may experience rapid vision loss, others may retain useful vision for many years. Peripheral vision is usually preserved, allowing patients to maintain some degree of independence. | The progression of Stargardt disease varies among individuals. While some may experience rapid vision loss, others may retain useful vision for many years. Peripheral vision is usually preserved, allowing patients to maintain some degree of independence. | ||
== See also == | |||
== | |||
* [[Macular degeneration]] | * [[Macular degeneration]] | ||
* [[Retinitis pigmentosa]] | * [[Retinitis pigmentosa]] | ||
| Line 39: | Line 50: | ||
* [[Best disease]] | * [[Best disease]] | ||
* [[Cone-rod dystrophy]] | * [[Cone-rod dystrophy]] | ||
== See Also == | == See Also == | ||
* [[Retina]] | * [[Retina]] | ||
| Line 45: | Line 55: | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Visual cycle]] | * [[Visual cycle]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{Commons category|Stargardt disease}} | {{Commons category|Stargardt disease}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Eye diseases]] | [[Category:Eye diseases]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Medicine-stub}} | {{Medicine-stub}} | ||
Latest revision as of 17:59, 8 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
| Stargardt disease | |
|---|---|
| |
| Synonyms | Stargardt macular dystrophy, juvenile macular degeneration |
| Pronounce | |
| Specialty | Ophthalmology |
| Symptoms | Central vision loss, blurry vision, color vision loss |
| Complications | N/A |
| Onset | Typically in childhood or adolescence |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic disorder |
| Risks | |
| Diagnosis | Eye examination, genetic testing |
| Differential diagnosis | Age-related macular degeneration, Best disease, Cone-rod dystrophy |
| Prevention | N/A |
| Treatment | No cure, low vision aids, genetic counseling |
| Medication | |
| Prognosis | N/A |
| Frequency | 1 in 8,000 to 10,000 people |
| Deaths | |
Stargardt disease, also known as Stargardt macular dystrophy, is an inherited disorder of the retina that causes progressive vision loss. It is the most common form of juvenile macular degeneration. The disease typically manifests in childhood or adolescence, but it can also appear in adulthood.
Genetics[edit]
Stargardt disease is primarily caused by mutations in the ABCA4 gene, which is responsible for the production of a protein involved in the visual cycle. This protein helps transport energy molecules within the photoreceptor cells of the retina. Mutations in the ABCA4 gene lead to the accumulation of toxic byproducts, which damage the photoreceptor cells and the retinal pigment epithelium (RPE).
Symptoms[edit]
The main symptom of Stargardt disease is a progressive loss of central vision, which is essential for tasks such as reading, driving, and recognizing faces. Other symptoms may include:
- Difficulty adapting to low light conditions (night blindness)
- Blurred vision
- Distorted vision (metamorphopsia)
- Color vision abnormalities
Diagnosis[edit]
Diagnosis of Stargardt disease typically involves a comprehensive eye examination, including:
- Visual acuity test
- Fundus photography
- Fluorescein angiography
- Optical coherence tomography (OCT)
- Electroretinography (ERG)
- Genetic testing to identify mutations in the ABCA4 gene
Treatment[edit]
Currently, there is no cure for Stargardt disease. However, several approaches are being researched, including:
- Gene therapy
- Stem cell therapy
- Pharmacological treatments to slow the progression of the disease
Patients are often advised to wear sunglasses to protect their eyes from ultraviolet light and to avoid vitamin A supplements, which can exacerbate the condition.
Prognosis[edit]
The progression of Stargardt disease varies among individuals. While some may experience rapid vision loss, others may retain useful vision for many years. Peripheral vision is usually preserved, allowing patients to maintain some degree of independence.
See also[edit]
- Macular degeneration
- Retinitis pigmentosa
- Leber congenital amaurosis
- Best disease
- Cone-rod dystrophy
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
Wikimedia Commons has media related to
.
