Kaugbosnägevus

Kaugbosnägevus refers to a rare genetic disorder characterized by a progressive deterioration of the optic nerve, leading to vision loss. It is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The gene responsible for kaugbosnägevus is located on chromosome 15.

The hallmark symptom is a gradual loss of peripheral vision, which can eventually lead to tunnel vision and complete blindness. Onset typically occurs in early to mid-adulthood, though some cases have been reported in childhood. Other symptoms may include color vision deficiencies and, in some individuals, hearing loss. The exact mechanism by which the genetic mutation leads to optic nerve degeneration is still under investigation, but it is believed to involve mitochondrial dysfunction.

Diagnosis is usually made through a combination of ophthalmological examinations, including visual field testing, optical coherence tomography (OCT) to assess the thickness of the retinal nerve fiber layer, and genetic testing to confirm the presence of mutations in the relevant gene. There is currently no cure for kaugbosnägevus, and treatment focuses on managing symptoms and maximizing remaining vision. This may include low vision aids and regular monitoring by an ophthalmologist. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and potential risks for future generations. Research is ongoing to explore potential therapeutic interventions aimed at slowing or halting disease progression.