Dystrophies

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Juvenile macular dystrophies are a large number of rare, inherited conditions that affect central vision, not peripheral (side) vision. They can appear in childhood, but some are not diagnosed until later in life.

Macular dystrophies are caused by inheriting a faulty gene from one or both parents. Genes act in pairs and we inherit one gene of each pair from each parent. Some conditions are caused by one faulty gene from one parent, this is known as a dominant form. In these cases the parent with the faulty gene will have the condition and has a 50% chance of passing it on. Recessive forms are where parents probably won’t have the condition themselves but they both carry the faulty gene.

Some families can benefit from genetic counselling, which helps people understand their condition and future implications. Counselling can also help a newly diagnosed person tell their family about their condition, which they often find difficult. Families or individuals can be referred for counselling by their ophthalmologist or GP.

Download Your Guide to Juvenile Macular Dystrophies for information about the following conditions:

  • Stargardt's
  • Best's disease
  • Sorsby’s
  • Pattern
  • Bull's eye
  • Doyne’s Honeycomb Dystrophy
  • Cone
  • Pseudoxanthoma Elasticum (PXE)

Related links: Genetic information and support service