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The retina is a light-sensitive layer of tissue lining the back of the eye. The macula is a small area at the centre of the retina responsible for all of our central vision, most of our colour vision, and the fine detail we see.

Myopia, pathological myopia and myopic macular degeneration

Myopic macular degeneration is a type of macular degeneration that occurs in people with severe myopia.

Stargardt disease is a genetic condition caused by a tiny alteration in a single gene. It is also known as fundus flavimaculatus and is the most common form of macular dystrophy. It affects approximately one in 10,000 people and affects both males and females.

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

The light-sensing cells in the retina come in two main kinds: rods and cones. Rods are extremely sensitive and work better in dim light, whereas cones are more effective in bright light. Cones give us our colour vision and although they exist across the retina, they are densely clustered around the macula.

Most cases of Doyne honeycomb dystrophy are caused by a mutation or mistake on a single gene called EFEMP1. This causes the gene to ‘fold’ a protein wrongly, and stops it breaking down as it should. The protein then builds up to create ‘drusen’ inside the eye tissue and stops nutrients getting from blood vessels to the light-sensing cells that need them. As the cells waste and die, sight is lost.

Sorsby fundus dystrophy causes similar symptoms to age-related macular degeneration (AMD), although it generally affects people at a younger age.

Pattern dystrophy is the umbrella term for a group of retinal conditions. All of them cause a build-up of waste material called lipofuscin, which causes damage to tissue in the eye.

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. The macula can often appear to have circular bands of different shades of pink and orange. It can appear at any age, and cause mild or more severe sight loss.

Pseudoxanthoma elasticum or PXE (pronounced ‘pixie’) is a disease affecting many parts of the body. It causes calcium and other minerals to build up in various body tissues, especially those which are usually elastic, such as the skin on the neck, armpits and knees. Affected skin develops a yellow, waxy, ‘cobblestone’ appearance and forms loose folds.