RecruitingNCT06345976

Functional Impairment in Albinism


Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Enrollment

50 participants

Start Date

Oct 1, 2024

Study Type

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

Min Age: 18 Years

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

OTHERquestionnaire

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

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NCT06345976