Functional Impairment in Albinism (PLAIB)

Fondation Ophtalmologique Adolphe de Rothschild

Status: Enrolling

Conditions: Albinism, Ocular

Treatments: Other: questionnaire

Study type: Observational

Funder types: NETWORK

Identifiers

NCT06345976

RLX_2023_10

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• All patients with albinism
• Patients > 18 years of age
• Non-opposition to study participation

Exclusion criteria

No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of completing questionnaire