Functional Impairment in Albinism
Fondation Ophtalmologique Adolphe de Rothschild
50 participants
Oct 1, 2024
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria3
- All patients with albinism
- Patients > 18 years of age
- Non-opposition to study participation
Exclusion Criteria1
- No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of completing questionnaire
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Interventions
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)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06345976