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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.
Familial amyloidosis can rarely manifest as retinal angiopathy. This case highlights successful treatment of vitreous hemorrhages using intravitreal bevacizumab and panretinal photocoagulation.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Familial amyloidosis, particularly the transthyretin V30M mutation, is a systemic disease.
- Retinal involvement is an uncommon initial presentation of this condition.
Observation:
- A 66-year-old woman presented with isolated bilateral retinal angiopathy.
- Workup for other causes of retinal vascular changes was negative.
- The patient later developed neovascularization and vitreous hemorrhages.
Findings:
- Diagnosis of systemic amyloidosis was confirmed by biopsy showing characteristic Congo red staining and birefringence.
- Genetic sequencing identified the transthyretin V30M mutation.
- Intravitreal bevacizumab and panretinal photocoagulation effectively managed recurrent vitreous hemorrhages.
Implications:
- This case expands the known clinical spectrum of transthyretin V30M familial amyloidosis.
- Early recognition of retinal angiopathy as a potential sign is crucial.
- Ophthalmologic interventions can successfully manage vision-threatening complications.
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