KIF1A

Cortical visual impairment (CVI) is a common symptom in patients with mutations in the KIF1A gene, which affects the functioning of visual acuity in the nervous system. In this case, the problem is not with the eyes, but with the visual cortex of the brain responsible for interpreting visual stimuli.

In people with KAND, CVI can cause difficulties in recognizing objects and faces, assessing space or movement of objects, as well as hypersensitivity to light. Vision fluctuations also often occur - a patient may notice objects well in one situation, but have great difficulty seeing them in another.

Because KIF1A mutations disrupt cellular transport in neurons, brain areas responsible for vision are also particularly susceptible to damage. Therefore, regular assessment of visual functions in patients with KAND is crucial to early implementation of strategies supporting vision and daily functioning.