Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
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.