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ORPHA:791  Retinitis pigmentosa

:: 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
Learning to read
Permanent limitation
Complete
Learning to write
Permanent limitation
Complete
Reading
Permanent limitation
Severe
Writing
Permanent limitation
Severe
Being aware of space
Permanent limitation
Complete
Receiving written messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Moderate
Maintaining head position
Permanent limitation
Low
Reaching and catching objects
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Eating
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Getting good quality sleep
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Moderate
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Severe
Doing housework
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Low
Playing with others
Permanent limitation
Low
Socializing
Permanent limitation
Low
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
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
Day/night cycles
Sound quality
Source: Dr Gérard DUPEYRON[Expert]
Last update: 03/05/2017

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