Leber congenital amaurosis
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
Leber congenital amaurosis
exact
Leber's congenital tapetoretinal degeneration
related
Leber's congenital tapetoretinal dysplasia
related
amaurosis congenita of Leber
exact
congenital absence of the rods and cones
related
congenital retinal blindness
related
SPCC736.13 SPAC806.06c SPBC26H8.07c SPAC23G3.08c SPBC2F12.14c