Abstract:

Familial amyloid polyneuropathies (FAP) are a group of life-threatening multisystem disorders transmitted as an autosomal dominant trait, and the TTR Val30Met mutation is the most common type. TTR FAP typically causes a nerve length-dependent polyneuropathy, along with autonomic dysfunction leading to cachexia and death within 10 years on average. Tissue biopsy was seen in Congo red affinity staining with a characteristic yellow-green birefringence under polarised light. The disease can be involved in the eyes, amyloid deposition in the pupil, trabecular, vitreous, causing secondary glaucoma and vitreous opacity. Vitrectomy can significantly improve the visual acuity of patients with vitreous opacity, with the risk of recurrence after surgery. A secondary glaucoma trabeculectomy with mitomycin infiltration is operated to control of intraocular pressure. High risk family members should carry out genetic testing, DNA testing provides predictive diagnosis for those without any symptom.