Retinitis pigmentosa (RP) can be caused by many underlying conditions. Luke’s cause of progressive vision loss is caused by Bardet-Biedl Syndrome (BBS), which affects multiple organ systems, including the eye.
What is Retinitis Pigmentosa?
Retinitis pigmentosa (RP) can be caused by many conditions. Luke’s cause of progressive vision loss is caused by Bardet-Biedl Syndrome (BBS), which affects multiple organ systems, including the eyes. There is a slow, progressive loss of vision until many BBS patients become blind in their teenage years.
How RP Causes Blindness
When someone has retinitis pigmentosa, the light sensitive layer in the back of the eye (the retina) begins to degenerate, resulting in slow vision loss. Unlike other more common causes of vision loss, such as refractive issues in the lens (the front of the eye), retinal diseases such as RP cannot be corrected by glasses.
What is Bardet-Biedl Syndrome?
Bardet-Biedl Syndrome (BBS) is one of many genetic conditions that can cause RP in young children. Our son, Luke, has been diagnosed with BBS1 for which he will soon begin to slowly lose his eyesight. And thus, the birth of A Race Against Blindness, an organization dedicated to finding a cure for BBS/RP.
What Are the Clinical Features of BBS?
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss. BBS also affects multiple other organ systems, including the kidneys and endocrine system. While vision loss and blindness is one of the most devastating hallmarks of BBS, a close second is obesity.
Have You Heard About the RV Giveaway?
The Lucky Winner Is Announced January 1st, 2024.
New Year. New Van. New Adventures.
Subscribe by Email for announcements, updates on events, news on clinical breakthroughs and more…