Summarized by Plex Health
Last Updated: 09 May 2022
a novel mutation in bbs7 gene causes bardet-biedl syndrome in a chinese family. "a novel mutation in bbs7 gene causes bardet-biedl syndrome in a chinese family.", by Yang Z, Yang Y, Zhao P, Chen K, Chen B, Lin Y, Guo F, Chen Y, Liu X, Lu F, Shi Y, Zhang D, Liao S, Xia Q. f2: The retinal changes of the affected patients of the family. Retinal dystrophy is one of main clinical features of Bardet–Biedl syndrome (BBS). Fundus pictures (top left: OD; top right: OS) and an angiography picture...

Bardet-Biedl syndrome is a disorder that impacts many parts of the body. Vision loss is among the major features of Bardet-Biedl syndrome. Loss of vision takes place as the light-sensing tissue at the back of the eye progressively deteriorates. Troubles with evening vision end up being noticeable by mid-childhood, adhered to by dead spots that develop in the side vision. Most individuals with Bardet-Biedl syndrome additionally develop blurred central vision and end up being lawfully blind by adolescence or very early their adult years. Other significant symptoms and signs of Bardet-Biedl syndrome include the existence of added fingers or toes, intellectual disability or learning troubles, and problems of the genitalia. Many people with Bardet-Biedl syndrome have kidney irregularities, which can be serious or life-threatening. Distinctive facial features, dental abnormalities, abnormally brief or integrated toes or fingers, and a partial or full loss of the sense of scent have also been reported in some people with Bardet-Biedl syndrome.

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