Hidden eye condition linked to albinism genes in healthy people?
NCT ID NCT04658381
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looked at 20 adults who have a flat spot in the center of their retina (fovea plana) but no known albinism or vision problems. Researchers used eye scans and genetic tests to see if these people carry gene changes linked to albinism. The goal was to better understand why some healthy people have this eye feature and whether it is related to albinism genes.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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20 people
The number who actually took part.
- Started
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Dec 2020
- Finished
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Nov 2023
- Lead sponsor
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A research network
The lead sponsor is a research network or cooperative group.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Patient over 18 years old; * Diagnosis of fovea plana in one or both eyes, confirmed by two ophthalmologists blinded to each other from OCT-B imaging; Exclusion Criteria: * Known Albinism * Known family history of albinism * History of eye surgery other than cataract * Alteration of macular visual function (loss of visual acuity independent of a disorder of the environments, central scotoma, metamorphopsies, etc.) * Presence of another anomaly in OCT in addition to the fovea plana (epiretinal membrane, damage to the external retina, etc.) * Syndromic fovea plana * Pregnant or breastfeeding woman
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Hôpital Fondation A. de Rothschuld
Paris, 75019, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.