Orphanet: Disability
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ORPHA:2542  Isolated microphthalmia-anophthalmia-coloboma

:: 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
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Unspecified
Driving
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Unspecified
Seeing/watching
Acquisition delay
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to read
Acquisition delay
Moderate
Learning to write
Permanent limitation
Unspecified
Learning to write
Acquisition delay
Unspecified
Reading
Acquisition delay
Unspecified
Writing
Acquisition delay
Unspecified
Being aware of time
Permanent limitation
Unspecified
Being aware of space
Permanent limitation
Unspecified
Receiving spoken messages
Permanent limitation
Unspecified
Receiving messages in sign language
Permanent limitation
Unspecified
Receiving nonverbal messages
Permanent limitation
Unspecified
Producing nonverbal messages
Permanent limitation
Unspecified
Producing nonverbal messages
Acquisition delay
Unspecified
Writing messages
Permanent limitation
Unspecified
Writing messages
Acquisition delay
Unspecified
Using communication devices
Permanent limitation
Unspecified
Reaching and catching objects
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Unspecified
Dressing/undressing
Permanent limitation
Unspecified
Dressing/undressing
Acquisition delay
Unspecified
Eating
Permanent limitation
Unspecified
Eating
Acquisition delay
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Unspecified
Moving around within the home
Permanent limitation
Unspecified
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Unspecified
Shopping
Permanent limitation
Unspecified
Cooking/preparing meals
Permanent limitation
Unspecified
Doing housework
Permanent limitation
Unspecified
Attending preschool
Permanent limitation
Unspecified
Attending mainstream school
Permanent limitation
Unspecified
Attending school in an adapted mainstream/special environment
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Unspecified
Accessing higher education
Permanent limitation
Unspecified
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Unspecified
Carrying out administrative procedures
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Permanent limitation
Unspecified
Carrying out daily routines
Permanent limitation
Unspecified
Taking part in community life
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Unspecified
Socializing
Permanent limitation
Unspecified
Socializing
Acquisition delay
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Travelling
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Receiving nonverbal messages
Acquisition delay
Unspecified
Staying asleep
Permanent limitation
Unspecified
Getting good quality sleep
Permanent limitation
Unspecified
Not defined
Eating
Interacting with other people
Dealing with strangers
Engaging in paid work in a standard environment
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
Source: [Expert]
Last update: 25/11/2019

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