NCT06345976

Functional Impairment in Albinism

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild · Network
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Albinism, Ocular

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2024-10-01
• Primary completion: 2025-10-01
• Completion: 2025-10-01
• First posted: 2024-04-03
• Last updated: 2025-02-13

Locations

1 site across 1 country: France