Informations générales (source: ClinicalTrials.gov)
Functional Impairment in Albinism (PLAIB)
Observational
Fondation Ophtalmologique Adolphe de Rothschild (Voir sur ClinicalTrials)
octobre 2024
octobre 2025
05 avril 2025
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| HOPITAL FONDATION A. DE ROTHSCHILD | Raphaël Lejoyeux | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
- All patients with albinism
- Patients > 18 years of age
- Non-opposition to study participation
- All patients with albinism
- Patients > 18 years of age
- Non-opposition to study participation
No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of
completing questionnaire