Functional Impairment in Albinism

Functional Impairment in Albinism

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.

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