[Ocular involvement in familial amyloid polyneuropathy]

Area of Science:

• Neurology
• Genetics
• Ophthalmology

Context:

• Familial amyloid polyneuropathy (FAP), also known as transthyretin (TTR) amyloid polyneuropathy, is an inherited, progressive neuropathy.
• It presents with sensorimotor and autonomic dysfunction, cardiac/renal failure, and ocular complications, leading to significant mortality.

Purpose:

• This review summarizes the pathophysiology, clinical findings, and treatment of ocular manifestations in FAP.
• It highlights the limitations of current treatments like liver transplantation for ocular involvement.

Summary:

• The TTR Val30Met mutation is the most common cause of FAP.
• Liver transplantation halts neuropathy progression in 70% of cases and improves survival.
• Tafamidis delays neurologic complications, but its effect on ocular symptoms is unknown.

Impact:

• Ocular involvement in FAP is increasingly recognized as a significant clinical challenge due to improved patient survival.
• Understanding and managing FAP's ocular manifestations is crucial for comprehensive patient care.