📂 Diseases
Leber congenital amaurosis 4 — Definition
Leber konjenital amaurosis tip 4 / Leber congenital amaurosis 4
Leber congenital amaurosis type 4 is a genetic disease with autozomal resessive transition, which leads to dysfunction of photoreceptor cells in the retina layer of the eye. The disease manifests itself with severe loss of vision or blindness in the first months of birth or life. Type 4 variant is caused by mutations in the AIPL1 gene, and is often associated with additional symptoms such as nistagmus (non-lingual eye movements) and photophobia (light sensitivity).
Frequently Asked Questions
❓ What is Leber konjenital amaurosis tip 4?
Leber konjenital amaurosis tip 4; leber congenital amaurosis type 4 is a genetic disease with autozomal resessive transition, which leads to dysfunction of photoreceptor cells in the retina layer of the eye. The disease manifests itself with severe loss of vision or blindness in the first months of birth or life. Type 4 variant is caused by mutations in the AIPL1 gene, and is often associated with additional symptoms such as nistagmus (non-lingual eye movements) and photophobia (light sensitivity).
❓ What is Leber congenital amaurosis 4 in Turkish?
The Turkish equivalent of "Leber congenital amaurosis 4" is Leber konjenital amaurosis tip 4.
❓ Which medical field is Leber konjenital amaurosis tip 4 related to?
This term belongs to the Diseases category.