Macular dystrophies

Macular dystrophies are a large number of rare, inherited conditions that affect central vision. They can appear in childhood, but some are not diagnosed until later in life.

Juvenile macular dystrophies affect people in different ways. As your dystrophy progresses, your ability to see clearly will change.

Most people are diagnosed with a juvenille dystophy after visiting an optician who identifies a potential problem.

Stargardt disease is a genetic condition caused by a tiny alteration in a single gene.

This is a group of five related macular conditions caused by mistakes or mutations in a gene called BEST1.

There are various ways in which cone dystrophy is inherited but it is most commonly described as ‘sporadic’.

Doyne honeycomb dystrophy is a dominant condition.

Sorsby fundus dystrophy is very rare.

Pattern dystrophy is a dominant macular dystrophy, usually occurring later in life.

Bull’s eye maculopathy describes a number of different conditions in which there is a ring of pale-looking damage around a darker area of the macula.

Pseudoxanthoma elasticum or ‘PXE’ is a disease that affects many parts of the body.