Macular dystrophy – Stargardt’s Disease

In correlation to hereditary genetic mutations, macular dystrophy causes disturbances of the inner black array of the eye where retina and photosensitive cells are located (photoreceptors). As the name would suggest, the macula (yellow spot) on the retina is being attacked during the course of macular dystrophy. Macula is the central part of the retina which contains photoreceptors responsible for central vision and color perception. Once it is damaged or gets dislocated during macular dystrophy, your central eyesight is damaged which may lead to permanent blindness.

What causes macular dystrophy?

Macular dystrophy differs a lot from more common eye disease known as macular degeneration, which is commonly caused by aging and the friction between retina and macula. While aging and other risk factors such as smoking do cause certain forms of macular degeneration, macular dystrophy is connected to genetic mutations which – with no apparent reason – cause degradation of the retina cells. Some forms of macular dystrophy are more prominent in childhood, while other forms appear at adult age. However, sometimes it is difficult to differentiate macular degeneration from hereditary macular dystrophy due to the similarities of the symptoms, which includes reduced eye sight and loss of central vision. One of the more common aspects of macular dystrophy is stargardt’s disease which takes up about 70% of macular dystrophy cases, usually being prominent in one’s childhood.

Diagnosis of stargardt’s disease

Symptoms of macular dystrophy can include reduced eyesight sharpness without any clear reason such as refractive errors or cataract. In case your eye doctor suspects you might be dealing with macular dystrophy, he can prescribe special eye tests which aren’t a part of the usual eye exam to establish a definitive diagnosis. For an example, test which is called fluorescent angiography can detect damage done by macular dystrophy effects. Test which uses optic coherent tomography (OCT) is also a valid option in order to determine and analyze the tissue pattern to check for presence of yellow-brown pigment which is located in the retinal pigment epithelium. Another option of definitive diagnosis is electroretinography which suggests positioning of the electrodes to the outer surface of the eye to measure your eye’s photoreceptors response to light.

Treatment of macular dystrophy

In case you’re dealing with macular dystrophy, you will need to visit a retina specialist who will help you determine the exact nature of your illness. For an example, some types of this condition are progressive and others are not. Genetic analysis and advisement may be required to determine the type of macular dystrophy you have and will this condition be transferred to your children. Also, you can make better choices about family planning if you have an idea of the degree of eye sight loss in correlation to your type of macular dystrophy. In this moment there isn’t a scientifically proven treatment for macular dystrophy. Genetic therapy has shown great potential but there is more research to be done.

About the author

Rani Vyas

Rani Vyas

I'm a Medical Consultant Doctor with a keen interest in Medical bioinformatics and genuinely intriguing way of presenting boring medical knowledge in an enchanting and eye catching way.

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