📂 Diseases
Leber congenital amaurosis 9 — Definition
Leber konjenital amaurosis 9 / Leber congenital amaurosis 9
Leber congenital amaurosis 9 is a hereditary retinal dystrophy, which often occurs in the first months of birth or life, leads to severe loss of vision. This disease is caused by mutations in the NMNAT1 gene and is characterized by dysfunction of photoreseptor cells. Clinical findings include nustagmus, pupils light reflex weakness and pronounced abnormalities in electroretinogram.
Frequently Asked Questions
❓ What is Leber konjenital amaurosis 9?
Leber konjenital amaurosis 9; leber congenital amaurosis 9 is a hereditary retinal dystrophy, which often occurs in the first months of birth or life, leads to severe loss of vision. This disease is caused by mutations in the NMNAT1 gene and is characterized by dysfunction of photoreseptor cells. Clinical findings include nustagmus, pupils light reflex weakness and pronounced abnormalities in electroretinogram.
❓ What is Leber congenital amaurosis 9 in Turkish?
The Turkish equivalent of "Leber congenital amaurosis 9" is Leber konjenital amaurosis 9.
❓ Which medical field is Leber konjenital amaurosis 9 related to?
This term belongs to the Diseases category.