Publications by authors named "Kazumi Kawato"
Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1.
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- * A case study reveals a 6-year-old girl diagnosed with BPAN through whole exome sequencing, displaying symptoms similar to Rett syndrome and distinct facial features, along with mildly elevated serum enzymes.
- * Brain imaging via T2*-weighted MRI and T2-star weighted angiography (SWAN) confirmed iron accumulation, highlighting the importance of these clinical and imaging features for early BPAN diagnosis.