Publications by authors named "Daishi Okuda"
The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.
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- The study aimed to investigate the link between the presence of torque teno virus (TTV) in the aqueous humor of uveitis patients and their medical history, particularly regarding immunodeficiency.
- Conducted as a multicenter, retrospective study, it included 58 uveitis patients and 24 control subjects, utilizing genetic testing methods to detect TTV and other pathogens.
- Results showed that ocular TTV was present in a significant percentage of uveitis patients, especially those with cytomegalovirus retinitis, and found a correlation between ocular TTV positivity and a clinical history of systemic immunodeficiency.
Article Synopsis
- A 53-year-old Japanese woman exhibited significantly low levels of high-density lipoprotein (HDL) during annual checkups, alongside corneal opacities but no typical signs like xanthomas or tonsillar hypertrophy.
- Genetic testing revealed a novel deletion in the APOA1 gene, leading to a mutation that likely disrupts the function of the apoA-I protein, which plays a role in lipid binding.
- The patient's family history suggested a hereditary issue with HDL cholesterol, but no mutations were found in related genes ABCA1 or LCAT, indicating that the low HDL and enzyme activity was primarily due to the affected apoA-I protein.