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BBS2

Disease Category: autosomal recessive

Treatment Options: 

Patient Population: 

Strategies to Preserve Eye Health:  

Active Clinical Trials: none found

Institution(s) Supporting Research:    

A FACE OF RP

Eyes

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BRIEF DESCRIPTION

Retinitis pigmentosa (RP) is a symptom of Bardet-Biedl syndrome type 2 (BBS2), an inherited disorder that affects the retina and other parts of the body. People with BBS2-related RP experience a gradual decline in vision, often starting with night blindness. Other symptoms include decreased peripheral vision, loss of visual acuity, and reduced color discrimination. BBS2 is characterized by a number of other features, including polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment. 


At present, there's no cure for RP, but treatments can help people make the most of their vision. These include low vision aids, rehabilitation programs, vitamins, and supplements. Gene-specific therapies may also be an option, but patients need to know the specific genetic cause of their disease. 
 

The majority of reported BBS cases are linked to mutations found in BBS1 and BBS10 genes. 

IN THE NEWS

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