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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 :
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| questionnaire | Other | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity. | 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?" | Day0 |
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Inclusion Criteria:
Exclusion Criteria:
No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of completing questionnaire
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Patients will be identified in the hospital's database, or may be contacted by patient associations.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| AmƩlie Yavchitz | Contact | +33148036454 | ayavchitz@for.paris |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| HƓpital Fondation A. de Rothschild | Recruiting | Paris | 75019 | France |
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| ID | Term |
|---|---|
| D016117 | Albinism, Ocular |
| ID | Term |
|---|---|
| D000417 | Albinism |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D030342 | Genetic Diseases, Inborn |
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| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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| D009358 |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D012873 | Skin Diseases, Genetic |
| D017496 | Hypopigmentation |
| D010859 | Pigmentation Disorders |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |