Gut bacteria found in eyes linked to blindness, genetic mutation

  • Sight loss due to genetic mutation, gut bacteria were present in eyes
  • The genetic mutation is associated with Leber congenital amaurosis
  • When the gene is mutated, barriers in the gut and the eye are compromised

Eyedropper and human eye (stock photo via Getty Images)

(NewsNation) — Researchers have linked gut bacteria to genetic mutations that cause blindness. The study, published in the journal Cell, found that in eyes affected by sight loss due to a specific genetic mutation, gut bacteria were present in the damaged areas.

The genetic mutation, known as Crumbs homolog 1 (CRB1), is associated with eye diseases such as Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), which are leading causes of inherited blindness.

The mutation, found in 10% of LCA cases and 7% of RP cases globally, compromises the body’s defenses, allowing harmful bacteria from the gut to enter the eye and trigger blindness.

The research, conducted using mouse models, revealed that the CRB1 gene plays a crucial role in maintaining the integrity of the gastrointestinal tract, preventing the passage of harmful bacteria from the gut into the body. However, when the gene is mutated, barriers in both the gut and the eye are compromised, leading to bacterial infiltration and sight loss.

Interestingly, treating the bacteria with antimicrobial agents like antibiotics prevented sight loss in the mice, indicating a potential avenue for treatment.

“Our findings could have huge implications for transforming treatment for CRB1-associated eye diseases. We hope to continue this research in clinical studies to confirm if this mechanism is indeed the cause of blindness in people, and whether treatments targeting bacteria could prevent blindness,” said Professor Richard Lee from University College London, Institute of Ophthalmology, and a co-lead author of the study.

Further research will explore whether these findings apply to humans and if targeting gut bacteria could prevent blindness in affected individuals.

Health

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