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Updated: Feb 21, 2026
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
TRANSTHYRETIN V30M FAMILIAL AMYLOIDOSIS PRESENTING AS ISOLATED RETINAL ANGIOPATHY
Judy J Chen1,2, Ananda Kalevar1,2, Robin A Vora3
1Department of Ophthalmology, California Pacific Medical Center, San Francisco, California.
Purpose:
To describe a patient with confirmed transthyretin V30M form of familial amyloidosis who presented initially with isolated retinal angiopathy.
Methods:
Retrospective chart review.
Results:
A 66-year-old woman presented with bilateral retinal angiopathy. Extensive workup for an infectious, inflammatory, or hypercoagulable cause was unrevealing. The patient subsequently developed bilateral neovascularization of the optic nerve and iris complicated by recurrent vitreous hemorrhages, which were treated with intravitreal bevacizumab and panretinal photocoagulation. The development of cardiac and gastrointestinal symptoms 5 years after presentation led to tissue biopsies that revealed both Congo red staining and apple-green birefringence in polarized light, confirming the diagnosis of systemic amyloidosis. Sequencing of the transthyretin gene confirmed the patient to be heterozygous for the common amyloidogenic V30M mutation.
Conclusion:
The common transthyretin V30M form of familial amyloidotic polyneuropathy can rarely present with retinal angiopathy. Recurrent vitreous hemorrhages were treated successfully with intravitreal bevacizumab and panretinal photocoagulation.
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