Study of rare genetic disorder that effects the eyes

April 03, 2020

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies (FAP). This disease impacts the gene encoding protein transthyretin (TTR) which is produced in the liver and also eyes. Liver transplants are often a treatment for this disease, but severe eyesight problems such as cloudiness and glaucoma remains, despite such procedures. This research is a retrospective observational study of what ophthalmologists have experienced in their practice over the years.

A group of doctors at Shinshu University Hospital decided to put together this study with the hope that sharing information with other researchers and doctors around the world might help further and bolster understanding and treatment for this eye disease, TTR-related FAP, which is referred to as hereditary ATTR amyloidosis, an autosomal dominant disorder.

The team led by Shinji Kakihara strived to articulate how doctors have cared for patients who have this disease and share issues that need addressing as well as positive outcomes from their care, on account that many ophthalmologists remain unaware of TTR-related FAP.

Patients are usually diagnosed with hereditary transthyretin amyloidosis by age 50 and have an overall survival rate of less than 10 years. Through accurate diagnosis by the Third Department of Internal Medicine (Neurology), patients were referred to the ophthalmology medical team of Shinshu University. Doctor Teruyoshi Miyahara examined many of the patients over the years.

Small gauge vitrectomy, or surgery on the eyes improved eyesight which was maintained until the last visit with the ophthalmologist when intraocular pressure control was adequate. However, subsequent glaucoma surgeries were needed if the intraocular pressure was not controlled, because pressure rapidly increases after vitrectomy and advanced the progression of glaucoma.

This is a very rare disease, but there are patients around the world who suffer from hereditary transthyretin amyloidosis. Doctors at Shinshu University are hopeful that their experience can be utilized to help protect the eyesight of people around the world.

They hope to continue research to see how they can further improve the eyes of people with familial amyloid polyneuropathy. This research is about a very rare disease, but many people suffer from glaucoma. The doctors hope to employ their understanding by continuing research of FAP as well as glaucoma.
-end-
Further information can be found on their paper on Scientific Reports.

Shinshu University

Related Glaucoma Articles from Brightsurf:

Monitoring glaucoma at home
Glaucoma is a chronic condition that affects cells at the back of the eye.

Study finds novel mechanism that may confer protection against glaucoma
A team of researchers from LSU Health New Orleans Neuroscience Center of Excellence and the University of Copenhagen provides the first evidence that patients with ocular hypertension may exhibit superior antioxidant protection that promotes resistance to the elevated intraocular pressure associated with glaucoma.

AI-supported test for very early signs of glaucoma progression
A new test can detect glaucoma progression 18 months earlier than the current gold standard method, according to results from a UCL-sponsored clinical trial.

New method gives glaucoma researchers control over eye pressure
Neuroscientists have developed a new method that permits continuous regulation of eye pressure without damage, becoming the first to definitively prove pressure in the eye is sufficient to cause and explain glaucoma.

Glaucoma care in prison inmates
Data from 82 prison inmates treated in a glaucoma clinic at an academic hospital were used in this observational study to report on how treatment and follow-up, including medication adherence, were are managed.

New glaucoma test to help prevent blindness
Researchers have identified 107 genes that increase a person's risk of developing the eye disease glaucoma, and now developed a genetic test to detect those at risk of going blind from it.

Air pollution linked to higher glaucoma risk
Living in a more polluted area is associated with a greater likelihood of having glaucoma, a debilitating eye condition that can cause blindness, finds a new UCL-led study in the UK.

Long-term statin use associated with lower glaucoma risk
A new study brings the connection between statin use and risk of glaucoma into sharper focus.

Health burden of glaucoma has risen worldwide
The health burden of glaucoma has continuously increased around the globe in the past 25 years, according to an Acta Opthalmologica study.

UAlberta scientists first to pinpoint a cause of pigmentary glaucoma
An international team of researchers has identified a gene responsible for the onset of pigmentary glaucoma, which may lead to new therapies for the condition.

Read More: Glaucoma News and Glaucoma Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.