Scattered across nearly every cell in the human body are microscopic, hair-like projections called cilia, and when the genes that build and maintain them break down, the effects ripple across multiple organs at once. That’s the underlying story behind a family of conditions called ciliopathies, and Bardet-Biedl Syndrome (BBS) is one of its better-known members. Vision loss shows up reliably in BBS, but it’s only one piece of a larger systemic picture that families in Uganda are usually already managing through their local physicians before they ever contact us.
Given how widely BBS reaches across the body, we keep our own role tightly defined: existing medical records are reviewed ahead of time to understand the full systemic context, and the in-person visit itself is reserved for the retinal testing and eye-care planning that depends on equipment most general clinics simply don’t have on hand.

Associate Professor, Vitreo-Retina Surgeon. 10+ Years Experience

Senior Consultant Ophthalmologist & Eye Surgeon· 26+ yrs experience

Consultant Ophthalmologist & Eye Surgeon, MD, DO .16+ Years Experience
” It doesn’t — our evaluation and treatment are limited strictly to the eye component. Weight management and kidney health need to stay under the care of the appropriate specialists, and we’re glad to share information back and forth with those teams where helpful.
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Often, yes — central vision in BBS tends to decline somewhat sooner than it does in non-syndromic RP, and that’s a key reason we lean toward more frequent monitoring for BBS patients specifically.”
“Definitely. A baseline ERG and OCT before any symptoms appear gives us something concrete to measure future visits against, and it lets us start low-vision planning ahead of time rather than only reacting once changes show up.”
“Bringing the broader medical picture helps our team understand the syndrome’s full context, even though what happens during the visit itself is focused specifically on the retinal evaluation.”
