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Macular disease
Macular dystrophy
The term Macular Dystrophy describes the appearance of the macula (central part of the retina) and it occurs in a number of eye conditions. Some Macular Dystrophies are congenital (exist at birth) but many develop in childhood or early adulthood. Often the cause is unknown (Idiopathic) but examples of inherited Macular Dystrophy include Best disease, Stargardt Macular Dystrophy, Bull's Eye Dystrophy and cone dystrophies. Each condition is rare.
The macular dystrophies can be divided into three main types:
Sometimes problems can be picked up during a pre-school or school screening programme. When a parent (or in an older child, the child him/herself) becomes aware of sight difficulties, a number of examinations and tests can be performed by an ophthalmologist to identify the problem. The ophthalmologist can check the way the eye reacts to bright light and can look at the optic nerve and the retina. Macular Dystrophy can be diagnosed if the ophthalmologist sees that the macula is pale with small specks of black, brown or red. A test called Electroretinogram (ERG) can be performed but this is not easy to carry out on a young child due to the need for sticky patches to be placed round the eyes with wires leading to a machine recording electrical signals made by the eyes.
In the macular dystrophies, the child's vision will be blurred (especially the central vision), the child will have photophobia (dislike bright light) and they will have poor colour vision. However, when young, the child will not realise that their vision is poor but this becomes apparent to the child as they grow older.
Some activities will be unaffected; peripheral vision is good so that the child will be able to run around safely but activities needing good central vision will be affected. Height changes, such as at kerbs will cause confusion and may result in falls. Similar problems will result in difficulties in games at home or at school.
There is no cure for the macular dystrophies so treatment is symptomatic. Encouragement to wear visual aids such as spectacles, contact lens or a low vision aid (LVA) is important. Shielding from bright lights with a brimmed hat will help. Teachers should be advised on classroom methods to help children with macular dystrophies and there is computer software that can be used to good effect. Advice gained from the experience of parents and children previously diagnosed is very helpful.
Inheritance patterns
This will depend on the specific form of Macular Dystrophy. For example Best disease, Butterfly-Shaped Dystrophy, and Bull's Eye Dystrophy are autosomal dominant.
Prenatal diagnosis
This may be possible in cases where there is a previous child in the family. Genetic advice should be sought.
Age related macular degeneration
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