BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
BRIEF DESCRIPTION
Retinitis pigmentosa (RP) is a symptom of Bardet-Biedl syndrome (BBS1), an inherited disease that causes progressive vision loss. RP is the primary cause of vision loss in BBS, affecting about 90% of patients. Other symptoms include obesity, extra fingers and toes, kidney disease, and developmental disabilities. The BBS1 gene provides instructions for making a protein that's part of a complex that helps form cilia, cell structures.
BBS is often diagnosed in childhood or adolescence. Patients typically develop RP symptoms in their first decade of life, and often reach legal blindness in their second or third decade. Night blindness is the most common initial symptom, usually first noticed around age 8.5.
There's no cure for RP, but treatments can help patients make the most of their vision. Treatments may include low vision aids, rehabilitation programs, vitamins and supplements, glasses to improve central visual acuity.