📂 Diseases
Leber congenital amaurosis 3 — Definition
Leber konjenital amaurosis 3 / Leber congenital amaurosis 3
Leber congenital amaurosis 3 (LCA3) is a hereditary eye disease, which is rare, characterized by progressive degeneration of the retina's photoresepter cells. Usually manifests itself with severe loss of vision or blindness in the first months of birth or life. The disease is caused by mutations in the RDH12 gene and shows autosomal resessive transition. Clinical findings include nustagmus, pupils response weakness and pronounced abnormalities in electroretinogram.
Frequently Asked Questions
❓ What is Leber konjenital amaurosis 3?
Leber konjenital amaurosis 3; leber congenital amaurosis 3 (LCA3) is a hereditary eye disease, which is rare, characterized by progressive degeneration of the retina's photoresepter cells. Usually manifests itself with severe loss of vision or blindness in the first months of birth or life. The disease is caused by mutations in the RDH12 gene and shows autosomal resessive transition. Clinical findings include nustagmus, pupils response weakness and pronounced abnormalities in electroretinogram.
❓ What is Leber congenital amaurosis 3 in Turkish?
The Turkish equivalent of "Leber congenital amaurosis 3" is Leber konjenital amaurosis 3.
❓ Which medical field is Leber konjenital amaurosis 3 related to?
This term belongs to the Diseases category.