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ORPHA:250923  Isolated aniridia

:: 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
Complete
Being aware of space
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Unspecified
Writing messages
Permanent limitation
Unspecified
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Complete
Shopping
Permanent limitation
Complete
Cooking/preparing meals
Permanent limitation
Complete
Doing housework
Permanent limitation
Complete
Looking after/helping others
Permanent limitation
Complete
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Complete
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Using communication devices
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Low
Moving around within the home
Permanent limitation
Low
Attending preschool
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Occasional
Temporality
Severity
Learning to read
Permanent limitation
Low
Learning to write
Permanent limitation
Low
Not defined
Falling asleep
Staying asleep
Getting good quality sleep
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.

Temperature
Humidity
Light intensity
Light quality
Air quality
Source: Pr Dominique BREMOND-GIGNAC[Expert]_Dr Melanie HINGORANI[Expert]_GENIRIS[Patient organisation]
Last update: 21/02/2017

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