Search

Search results

Rod-cone dystrophy

Rod-cone dystrophy is an umbrella term used to describe retinal conditions in which the rod-shaped photoreceptors, found mainly in the peripheral areas of the retina, degenerate ahead of the cone-shaped photoreceptors in the centre.

A man looking into an eye examination device

Refsum syndrome

In Refsum Syndrome, visual impairment is accompanied by hearing loss, neurological problems, heart problems, dry or flaky skin, loss of sense of smell, and oddly shaped red blood cells.

A man looking into an eye examination device

Bardet-Biedl syndrome (BBS)

Bardet-Biedl syndrome (BBS) is an inherited, rare condition which impacts many parts of the body including the retina.

About Unlock Genetics

The aim of the site is to increase the level of awareness and understanding of genetic testing and genetic counselling among people living with inherited retinal dystrophies, empowering them to make fully informed decisions about their lives, healthcare and family planning.

A series of cogs interlocking on a blue background

Inheritance patterns

Your doctor or genetic counsellor will spend some time asking about other people in your family to try to work out the way in which your particular faulty gene has been passed down through the generations – this is referred to as the inheritance pattern.