📂 Diseases
Leber congenital amaurosis 12 — Definition
Leber konjenital amaurosis 12 / Leber congenital amaurosis 12
Leber congenital amaurosis 12 is a serious type of retinal dystrophy, starting in early childhood, resulting from mutations in the RD3 gene. The disease is characterized by pronounced loss of vision from birth or in the first months of life, nustagmus (non-lingual eye movements) and pupils attenuation of response. Timely the retinal degeneration progresses and leads to permanent blindness. This form shows autozomal resessive transition and is not yet to treat other types of LCA.
Frequently Asked Questions
❓ What is Leber konjenital amaurosis 12?
Leber konjenital amaurosis 12; leber congenital amaurosis 12 is a serious type of retinal dystrophy, starting in early childhood, resulting from mutations in the RD3 gene. The disease is characterized by pronounced loss of vision from birth or in the first months of life, nustagmus (non-lingual eye movements) and pupils attenuation of response. Timely the retinal degeneration progresses and leads to permanent blindness. This form shows autozomal resessive transition and is not yet to treat other types of LCA.
❓ What is Leber congenital amaurosis 12 in Turkish?
The Turkish equivalent of "Leber congenital amaurosis 12" is Leber konjenital amaurosis 12.
❓ Which medical field is Leber konjenital amaurosis 12 related to?
This term belongs to the Diseases category.