Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a rare inherited condition that causes progressive retinal dystrophy along with a range of other body-wide features, leading to significant sight loss over time.

Common symptoms

Difficulty seeing in dim light in childhood, followed by loss of side and eventually central vision, with associated features such as learning difficulties, extra fingers or toes, obesity, and kidney problems.

Description

Bardet-Biedl syndrome is caused by changes in genes that affect tiny hair-like structures called cilia found on many cells in the body. In the eye, this leads to a rod-cone dystrophy that progressively damages the retina.

Visual symptoms typically begin in childhood with night blindness, followed by shrinking side vision and later loss of central vision, often leading to severe visual impairment by adulthood. Other features of the syndrome vary between individuals but can include kidney disease, weight gain, polydactyly, and developmental differences.

Care is shared between many specialties, including ophthalmology, kidney medicine, endocrinology, and genetics. While there is no cure for the retinal changes, low vision aids, mobility support, and education input all play key roles, and eligible families may be able to join research registries.