📂 Diseases
Leber congenital amaurosis 5 — Definition
Leber konjenital amaurosis tip 5 / Leber congenital amaurosis 5
Leber congenital amaurosis type 5 is a genetic disease that affects the function of photoreceptor cells in the retina layer of the eye. This condition causes serious loss of vision from birth or early babyhood. The disease occurs as a result of mutations in the LCA5 gene, and autosomal resesif inheritance manifests. Clinically, nistagmus (non-market eye movements), pupils are characterized by response reduction and pronounced abnormalities in electroretinogram.
Frequently Asked Questions
❓ What is Leber konjenital amaurosis tip 5?
Leber konjenital amaurosis tip 5; leber congenital amaurosis type 5 is a genetic disease that affects the function of photoreceptor cells in the retina layer of the eye. This condition causes serious loss of vision from birth or early babyhood. The disease occurs as a result of mutations in the LCA5 gene, and autosomal resesif inheritance manifests. Clinically, nistagmus (non-market eye movements), pupils are characterized by response reduction and pronounced abnormalities in electroretinogram.
❓ What is Leber congenital amaurosis 5 in Turkish?
The Turkish equivalent of "Leber congenital amaurosis 5" is Leber konjenital amaurosis tip 5.
❓ Which medical field is Leber konjenital amaurosis tip 5 related to?
This term belongs to the Diseases category.