Article
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
The British journal of ophthalmology - 1 Dec 2014
Khan Arif O, Al-Mesfer Saleh, Al-Turkmani Shahira, Bergmann Carsten, Bolz Hanno J
Abstract excerpt
BACKGROUND: Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than neurodevelopmental delay, reported in up to 20% of cases according to one older study. The phenotype is typically autosomal recessive and is genetically heterogeneous. Although LCA is defined by a non-recordable electroretinogram (ERG) during infancy, many LCA studies include infants with low ERG...
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