Posters

Familial amyloid polineuropathy with ocular involvement: a case of secondary open-angle glaucoma

Poster Details

First Author: S. Rodrigues PORTUGAL

Co Author(s):    D. Cristovao   J. Godinho Ferreira   J. Fernandes   J. Segurado           

Abstract Details

Purpose:

To describe the clinical case of a patient with previously undiagnosed Familial Amyloid Polyneuropathy (FAP) discovered due to rapidly progressive bilateral open angle glaucoma.

Setting:

Glaucoma Department, Instituto de Oftalmologia Dr Gama Pinto, Lisbon, Portugal

Methods:

Case report of a single patient

Results:

We present a 46 year old female with open-angle glaucoma. Examination of the right eye showed afferent pupilary defect, deposition of “whitish” material on the iris, and multiple indentations of the pupillary edge creating a “star shaped pupil”. A history was ellicited of recent onset gait ataxia, decreased sensitivity in the lower limbs and autonomic dysfunction. Family history was positive for a hereditary disease which resulted in her father’s early death and the need for liver transplantation in two fraternal cousins. Genetic testing revealed Transthyretin Val30Met mutation confirming FAP with ocular involvement.

Conclusions:

FAP is a genetic disease highly prevalent in areas of Portugal, Sweden and Japan. Ocular involvement usually occurs late in the course of the disease and will continue to progress even after liver transplantation. Even though genetic testing is done early in affected families, the patient’s father’s early death and subsequent family estrangement kept her from earlier medical attention. Decreased visual acuity from amyloid induced open-angle glaucoma was her first manifestation of the disease.

Financial Disclosure:

NONE