Leber's congenital amaurosis (LCA) is a rare, inherited disorder
of the retina (the light-sensitive cells at the back of the eye),
in which there is poor vision, nystagmus (involuntary side
to side movements of the eyes) and evidence of abnormal retinal
function from infancy. As affected children grow older, parents may
notice that they develop a habit of poking one or both eyes. The
condition is caused by a mutation in one of several genes which
have an important function in the eye. A diagnosis of LCA may be
based on typical clinical history and findings of an eye
examination, and but confirmation of the diagnosis is made using an
electroretinogram (ERG). In this test, electrodes are placed on the
eyelids and tiny electrical signals generated by the eye in
response to light are recorded. A minority of babies with the
typical symptoms of LCA may have other medical problems in early
infancy, such as developmental delay (see entry Global Developmental Delay).
In such cases, other conditions such as peroxisomal disorders (more
general problems with production of chemicals needed for brain
development) need to be excluded.
Until recently, management has been supportive and based on
symptoms displayed, but there have been experimental reports of
encouraging results from small trials of gene therapy for one type
Affected children will need support from a multidisciplinary
team to advise on available help, assistive devices and educational
This overview is intended to be a basic description of the
condition. It is not intended to replace specialist medical advice.
We advise that you discuss your child's case with a qualified
medical professional who will be able to give you more detailed
Medical text approved November 2013 by Dr Jenny Fisken
(retired), formerly Associate Specialist in Community Paediatrics,
North Yorkshire and York PCT.
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