Orphanet: Disability
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ORPHA:180  Choroideremia

:: Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

 Loss of an ability
Very frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Severe
Receiving messages in sign language
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Severe
Using communication devices
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Severe
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Low
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Shopping
Permanent limitation
Low
Cooking/preparing meals
Permanent limitation
Low
Doing housework
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Engaging in paid work in a standard environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Low
Not defined
Participating in a conversation
Interacting with other people
Dealing with strangers
Engaging in sexual relationships
Environmental factors

:: Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Light intensity
Light quality
Source: Dr José María MILLÁN SALVADOR[Expert]_Dr Carmen AYUSO GARCÍA[Expert]_France Choroidérémie[Patient organisation]
Last update: 27/03/2015

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