Ophthalmological Manifestations of Hereditary Amyloidosis due to Transthyretin: A Systematic Review

Introduction: Amyloidosis involves the deposition of fibrillar proteins in tissues. Hereditary transthyretin amyloidosis (ATTRv), caused by TTR gene mutations, affects various tissues, with ocular involvement in about 10% of patients. Objective: To describe and quantify ocular manifestations in ATTRv through a systematic review. Methods: We reviewed studies on ocular manifestations of ATTRv, including only articles in Portuguese and English, excluding case reports, conference abstracts, and duplicates. Results: Sixteen studies with 1792 patients were analyzed. Vitreous opacities were found in 87.5% of studies (36% frequency). Dry eye was reported in 50% (48.5% frequency) and scalloped pupil in 37.5% (35.9% frequency). Glaucoma had an average frequency of 18.2%, while amyloid deposits in the lens appeared in 37.5% of studies (25.8% frequency). Retinal hemorrhage and vascular tortuosity were less common, and conjunctival lymphangiectasia was found in one study (54.2%). The Val30Met mutation was most prevalent, noted in 92% of cases. No clear link between ocular and systemic symptoms was identified. Conclusion: Vitreous opacities were the most common ocular manifestation, followed by dry eye and scalloped pupil. Further research is needed due to the limited number of representative studies.