Patients with hereditary transthyretin amyloidosis (hATTR) often have ocular manifestations that may be associated with devastating consequences to best-corrected visual acuity (BCVA) and quality of life, according to the results of a cross-sectional, noninterventional study conducted in Spain and published in Retina.

The researchers sought to determine ophthalmologic involvement in patients with hATTR and its correlation with mutations described in the literature. The current analysis included 58 eyes from 29 individuals with hATTR who were receiving care at the Inherited Cardiac Diseases Unit of Puerta de Hierro-Majadahonda University Hospital in Madrid.

hATTR is an autosomal dominant disease caused by variants in the TTR gene. The TTR protein is also referred to as prealbumin—a homotetrameric protein synthesized mainly by the liver, as well as by the choroidal plexi of the brain, retinal pigment epithelium, and pancreas. TTR mutations can lead to conformational changes that destabilize TTR and increase the deposition of misfolded subunits within different organs.

All patients needed to fulfill the following criteria: (1) age of at least 18 years, (2) carrier of pathogenic or likely pathogenic variants, and (3) willingness to participate in the study. Individuals with non-hATTR amyloidosis were excluded from study participation. Fifty-two eyes from 26 participants were ultimately evaluated.

The mean participant age was 57.8±13.7 years (range, 42 to 81 years). Overall, 42% (11 of 26) of the participants were women. All participants underwent a complete ophthalmologic examination, multimodal imaging, and neurologic, cardiologic, renal, and digestive examinations.

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Results showed that 34.62% (18 of 52) of the eyes exhibited amyloid-associated ophthalmologic involvement, with vitreous amyloid deposits as the most common ocular manifestation, present in all affected eyes. Ophthalmologic involvement was significantly more common in women than in men (P <.05).

When affected eyes were compared with unaffected eyes, statistically significant differences were reported for the presence of vitreous amyloid deposits (P <.01), crystalline amyloid deposits (P <.05), parenchymal amyloid deposits
(P <.01), and vascular alterations (P <.01). Additionally, worse BCVA was observed in the affected eyes vs the unaffected eyes (P <.01).

The authors concluded that “hATTR is a systemic disease that could potentially lead to severe ocular involvement with devastating consequences to our patients’ BCVA and quality of life, where ophthalmologic assessment is paramount to identify, follow, and in some cases treat the alterations that tend to appear in time in different parts of the eye.”

Reference

Ruiz-Medrano J, Puertas M, Almazán-Alonso E, et al. Ophthalmologic involvement in patients with hereditary transthyretin amyloidosis. Retina. 2023;43(1):49-56. doi:10.1097/IAE.0000000000003641