📂 Diseases
Leber congenital amaurosis 16 — Definition
Leber konjenital amaurosis 16 / Leber congenital amaurosis 16
Leber congenital amaurosis 16 is a rare genetic retina disease that started early childhood and leads to severe loss of vision. This disease occurs as a result of mutations in KCNJ13 gene, resulting in dysfunction of photoreseptor cells. Patients often show a lack of response to nistagmus (non-lingual eye movements) and pupils in birth or first months. Timely, retinal degeneration progresses and persistent blindness can develop.
Frequently Asked Questions
❓ What is Leber konjenital amaurosis 16?
Leber konjenital amaurosis 16; leber congenital amaurosis 16 is a rare genetic retina disease that started early childhood and leads to severe loss of vision. This disease occurs as a result of mutations in KCNJ13 gene, resulting in dysfunction of photoreseptor cells. Patients often show a lack of response to nistagmus (non-lingual eye movements) and pupils in birth or first months. Timely, retinal degeneration progresses and persistent blindness can develop.
❓ What is Leber congenital amaurosis 16 in Turkish?
The Turkish equivalent of "Leber congenital amaurosis 16" is Leber konjenital amaurosis 16.
❓ Which medical field is Leber konjenital amaurosis 16 related to?
This term belongs to the Diseases category.