Lifting the Cloud
Research into a rare genetic disease could improve understanding of glaucoma
A new retrospective observational study sheds light on a rare hereditary neurogenerative disorder – familial amyloid polyneuropathies (FAP). FAP is usually diagnosed by the age of 50, leaving patients with less than 10 years to live; ocular symptoms include cloudiness and glaucoma. The disease attacks the liver and eyes, because it affects a gene encoding a protein called TTR, produced in those organs. The study conducted at Shinshu University Hospital in Matsumoto, Japan, shares best practice protocols developed while caring for patients with FAP, including the use of small-gauge vitrectomy, which resulted in an improvement of patients’ vision, but meant that IOP had to be closely monitored and surgically managed. Researchers hope that this study of a very rare disorder can help better understand post-vitrectomy IOP changes.
- S Kakihara et al., Sci Rep, 10, 5574 (2020). PMID: 32221479.
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