Author: Elena Almazan-Alonso (Spain)
Co-authors: Mariluz Puertas Ruiz-Falcó, Jorge Ruiz-Medrano, Bachar Kudsieh, Rocio Vega Gonzalez, Marina Fernandez Jimenez, Jose María Ruiz-Moreno
To report a multifocal retinal arterial occlusion in a TTR amyloidosis patient due to amyloid perivascular deposits.
Puerta de Hierro-Majadahonda University Hospital, Madrid (SPAIN).
A case report of 60 years old female patient diagnosed of familiar TTR amyloidosis (Glu89Lys). The patient underwent a thorough ophthalmological examination of both eyes including: best corrected visual acuity (BCVA), slit-lamp anterior segment examination, indirect fundus ophthalmoscopy (FO) and multimodal imaging exam (color fundus photography, Fluorescein angiography (FA), Swept-Source optical coherence tomography (SS OCT) using DRI-OCT Triton PLUS 3D (Topcon Corporation, Japan) and blue- light fundus autofluorescence (FAF) using Spectralis OCT (Heidelberg Engineering), and wide field OCT-A using Xephilio OCT-S1 (Canon)).
The patient presented in our amyloidosis ocular unit at Puerta de Hierro University Hospital 8 months after the systemic amyloidosis debut (Glu89Lys mutation). Specific treatment for amyloidosis (Tafamidis 61 mg) was introduced 10 days before our first visit. BCVA at the initial presentation was 0.9 in both eyes. Regarding the anterior pole, no amyloid deposits were found. At funduscopy exploration, dense amyloid deposits in vitreous and yellowish, raised, perivascular deposits were found, as well as non-perfused vessels distal to these deposits. Multimodal imaging with wide field OCTA, showed deep capillary plexus non-perfused areas and inner retinal thinning associated to arterial ischemia. FA images showed staining of the deposits without leakage, and distal non-perfusion. During 16 months of follow-up macular involvement worsened causing a reduction of BCVA, similarly, peripheral perivascular deposits increased in number and severity.
Familiar TTR amyloid deposits can produce arterial occlusions that endangered the patient visual acuity. Multimodal imaging using wide-field systems, based on a single 23x20 mm photograph, offers an almost 90% visualization of circulatory network and reach even the most peripheral areas. This technique is non-invasive and less time consuming, allowing a best assessment and follow-up of the patient.