Juvenile macular dystrophies

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.

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.

Best disease is a dominant juvenile macular dystrophy.

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 affecting many parts of the body.