Rare cholesterol disorder linked to hidden eye risk

NCT ID NCT05208879

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vision problems despite vitamin therapy. The goal was to better understand eye health risks in this group.

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Conditions

The condition(s) this trial relates to.

abetalipoproteinemia chylomicron retention disease hypobetalipoproteinemia retinitis pigmentosa

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Fédération d'endocrinologie, maladies métaboliques, diabète et nutrition Hôpital cardiovasculaire et pneumologique Louis Pradel

    Bron, Bron, 69677, France

  • UF nutrition pédiatrique, Service hépatologie, gastroentérologie et nutrition pédiatrique Hôpital Femme Mère Enfant de Lyon (GHE-HFME)

    Bron, Bron, 69677, France

  • UF nutrition pédiatrique, Service hépatologie, gastroentérologie et nutrition pédiatrique Hôpital Femme Mère Enfant de Lyon (GHE-HFME)

    Bron, 69500, France