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Rachael first noticed she had sight problems at the age of 15. She went to her local eye clinic, who said she had an astigmatism.

• Case study - community
• Written

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

Alstrom syndrome is an inherited condition which affects many body systems.

Usher syndrome is an inherited condition that affects both hearing and vision. The symptoms of Usher syndrome consist of childhood-onset hearing loss, progressive vision loss caused by degeneration of the retina (retinitis pigmentosa), and sometimes balance problems.

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.

Charles Bonnet syndrome (CBS) causes people who have lost a lot of sight to see things that aren’t real (hallucinations).

People with NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) syndrome have neurological (muscle weakness, epilepsy and memory problems) and balance problems in addition to retinitis pigmentosa.

In this condition, retinitis pigmentosa is accompanied by progressive neurological problems, abnormal red blood cells (acanthocytosis) and defective bowel absorption of fat, leading to very low blood levels of cholesterol and absent beta lipoprotein (Abetalipoproteinaemia).

Inherited progressive sight loss is caused by a range of rare genetic conditions. We specialise in those which affect the retina.