Clinical Research Directory
Browse clinical research sites, groups, and studies.
Functional Impairment in Albinism
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild
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
Conditions
Interventions
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