Albinism, Ocular
Conditions
Brief 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.
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.
Sponsors
Fondation Ophtalmologique Adolphe de Rothschild
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity. | Day0 | To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity. Percentage of positive responses to question Would you be interested in the possibility of a treatment for glare if it did not improve the quality of vision or visual stability? |
Countries
France
Contacts
Primary ContactAmélie Yavchitz
Outcome results
None listed