Leber’s Congenital Amaurosis

Also known as: Leber’s Amaurosis

Overview

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 of LCA.

Affected children will need support from a multidisciplinary team to advise on available help, assistive devices and educational support needs.

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 information.

Credits

Medical text approved November 2013 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is no support group for Leber’s congenital amaurosis in the UK. Cross referrals to other medical inforrmation entrieson our website are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Leber’s congenital amaurosis.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.