skip banner - Return to original view
site viewing options
 
Parents|Medical Information|Professionals|In your area|Campaigns

Leber's Congenital Amaurosis

How is it diagnosed?

A diagnosis of LCA may be suspected on the basis of the typical clinical history and findings on eye examination but confirmation of the diagnosis relies on electrodiagnostic testing. A specific test, the electroretinogram (ERG) is performed. In this test electrodes are placed on the eyelids close to the eye and the tiny electrical signals generated by the eye in responses to light are recorded. In all forms of LCA the ERG is non–recordable or very poor. The ERG can help distinguish LCA from other retinal dystrophies that cause nystagmus in infancy such as achromatopsia and congenital stationary night blindness.

A minority of babies with the typical symptoms and signs of LCA may have other medical problems in early infancy such as developmental delay (see entry Global developmental delay) and other neurological signs and in such cases other conditions such as the peroxisomal disorders need to be excluded. A few children initially given the diagnostic label of LCA will later have a revised diagnosis if other medical problems develop with time. Features which may lead to a modified diagnosis include: kidney problems (Senior-Loken syndrome and Joubert syndrome see entry), heart problems, diabetes, hearing loss (Alström syndrome see entry), panting breathing pattern in infancy and later head shaking when using vision to track (Joubert syndrome).

LCA is a completely different condition from Leber's Hereditary Optic Neuropathy - the only connection being a description by the same doctor.

View What are the causes? What are the causes?  |  How is it treated? View How is it treated?

Medical text written January 1999 by Miss Isabelle Russell-Eggitt FRCS FRCOphth. Last updated February 2009 by Professor A T Moore, Division of Inherited Eye Disease, Institute of Ophthalmology UCL, 11-43 Bath Street, London EC1V 9EL

 

Tell us what you think of this information...

Print whole article Print whole article

 

This Web Site © Copyright, Contact a Family 2010
Contact a Family, 209-211 City Road, London EC1V 1JN
Tel: 020 7608 8700

Registered Charity No. 284912. Charity registered in Scotland No. SC039169
Company limited by guarantee, registered in England and Wales No. 1633333.
HM Revenue & Customs charity tax reference No. XN54769. VAT Reg. No. GB 749 3846 82

This website is certified by Health On the Net Foundation. Click to verify. This site complies with the HONcode standard for trustworthy health information:
verify here.