Retinal degeneration can be one feature of a genetic condition that also affects other body systems. Certain genetic faults that cause damage to the eye can also impact other organs and tissues. Where more than one body system is involved, the condition is called a syndrome. However, the sight loss aspect can be very similar to that experienced by people living with non-syndromic retinitis pigmentosa.
Bardet-Biedl syndrome (BBS) is a recessively inherited condition.
More detailed information on Bardet-Biedl syndrome is available from
- Bardet-Biedl Syndrome UK
- https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
- https://gene.vision/knowledge-base/bardet-biedl-syndrome-bbs-for-patients/ (information for patients)
- https://gene.vision/knowledge-base/bardet-biedl-syndrome-bbs-for-doctors/ (information for professionals)
Meet our community: Rachel Foley
That was when she was found to have Bardet-Biedl Syndrome (in which sight loss is one element). Her genetic diagnosis of BBS1 put a lot of things “into perspective” for her.
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