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ORPHA:65 Leber congenital amaurosis

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.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability
Very frequent

Temporality
Severity
Seeing/watching
Permanent limitation
Unspecified
Frequent

Temporality
Severity
Driving
Permanent limitation
Unspecified
Moving around outside the home
Permanent limitation
Unspecified
Seeing/watching
Transient limitation
Moderate
Occasional

Temporality
Severity
Controlling one's own general behaviour
Permanent limitation
Moderate
Driving
Acquisition delay
Moderate
Falling asleep
Permanent limitation
Low
Falling asleep
Acquisition delay
Low
Getting good quality sleep
Permanent limitation
Low
Getting good quality sleep
Acquisition delay
Low
Handling emotions and mood
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Low
Moving around outside the home
Acquisition delay
Moderate
Moving around within the home
Permanent limitation
Low
Moving around within the home
Acquisition delay
Low
Staying asleep
Permanent limitation
Low
Staying asleep
Acquisition delay
Low
Staying awake
Permanent limitation
Low
Staying awake
Acquisition delay
Low
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: Dr Mark WILKINSON[Expert]
Last update: 15/09/2016

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The documents contained in thisweb site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.