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Leber's Congenital Amaurosis
(LCA-2)
Salman Razzaque
January 21, 2008
BioChem118
What is LCA?
•  Eye disease •  Most common cause of inherited
blindness
•  Autosomal recessive •  11 different types of LCA (1-11)
•  LCA-2 causes a defect the gene RPE65,
which prevents the retina from
detecting light
Diagram of LCA
•  Rhodopsin is a
photoreceptor •  Lots of enzymes
involved •  RPE65 is mutated
(4bp deletion) •  Rhodopsin does not
function properly Classical Diagnosis
•  Check for blindness or severe visual
impairment
•  Reduced photopic electroretinogram
(ERG)
•  Retina pigment migration
•  Oculo-digital sign •  Family history Classical Treatment
•  No cure
•  Prevention of secondary complications
•  Surveillance
Genetic Diagnosis
•  Sequence analysis •  Carrier testing
•  Prenatal diagnosis
Genetic Treatment
•  RPE65 injected into
retina •  University of
Pennsylvania and
University College
London had
successful clinical
trials
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