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

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.

To describe and quantify ocular manifestations in ATTRv through a systematic review.

We reviewed studies on ocular manifestations of ATTRv, including only articles in Portuguese and English, excluding case reports, conference abstracts, and duplicates.

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.

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.