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RECRUITING
NCT06345976

Functional Impairment in Albinism

Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

View on ClinicalTrials.gov

Summary

Albinism is a genetic and hereditary anomaly that affects pigmentation. This pathology is characterized by a deficit in melanin production. In humans, the clinical diagnosis of albinism is based on a number of factors, including : * In the integumentary region: fair skin tone, with white hair, eyelashes and eyebrows. * Ophthalmological: reduced visual acuity, photophobia, nystagmus, transilluminated blue irises, hypopigmentation of the retina at the back of the eye with fovea plana. As treatment options begin to emerge for certain albinism-induced anomalies (including, for example, the depigmentation that causes photophobia), it is desirable to understand what these patients' complaints are, and to gather their views on the emergence of treatments targeting just one of their complaints, namely glare.

Key Details

Gender

All

Age Range

18 Years - Any

Study Type

OBSERVATIONAL

Enrollment

50

Start Date

2024-10-01

Completion Date

2025-10-01

Last Updated

2025-02-13

Healthy Volunteers

No

Interventions

OTHER

questionnaire

On-line self-questionnaire, in the form of an 18-question form, the link to which is sent by e-mail to patients with albinism who have agreed to take part in the study.

Locations (1)

Hôpital Fondation A. de Rothschild

Paris, France