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Leber's Congenital Amaurosis
How is it diagnosed?
Electrodiagnostic testing is essential in the differential diagnosis. All types of LCA have poor function of both the rod and cone receptors in the retina. The ERG (electroretinogram) will be unrecordable or very small and eye movements will be roving or jerky (see entry, Nystagmus).
A few children initially given the diagnostic label of LCA will later have a revised diagnosis if problems become apparent apart from the eyes. Some of these children will even develop moderate visual function. Other features which may lead to a modified diagnosis include: kidney problems - Senior-Loken syndrome and Joubert syndrome; heart problems - Alström syndrome; and 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.
What are the causes?
| How is it treated? 
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