Nearly every cell in the human body has tiny, hair-like structures called cilia, and when the genes responsible for building and maintaining them go wrong, the effects can ripple across several organs simultaneously. That’s the underlying mechanism behind a group of conditions known as ciliopathies, and Bardet-Biedl Syndrome (BBS) is one of the better-recognised examples. Vision loss is a consistent feature of BBS, but it’s just one part of a wider systemic picture that Rwandan families are typically already managing with local physicians before they reach out to us.
Given how broadly BBS reaches across the body, we deliberately keep our own role narrow: existing records are reviewed beforehand to understand the fuller systemic context, and the in-person visit is reserved specifically for the eye testing and care planning that depends on equipment most general clinics don’t have.

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
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It won’t — our evaluation and treatment stay strictly limited to the eye component. Weight management and kidney health need to remain under the care of the relevant specialists, and we’re happy to share information with those teams where it’s useful.”
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Frequently, yes — central vision in BBS tends to be affected somewhat sooner than it is in non-syndromic RP, which is a major reason we lean toward closer monitoring specifically for BBS patients.”
“Definitely. Getting a baseline ERG and OCT done before symptoms appear gives us something solid to compare against at future visits, and lets us plan low-vision support ahead of time instead of only reacting once changes show up.”
” The broader medical picture helps our team understand the full context of the syndrome, even though the visit itself is focused specifically on the retinal evaluation.
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