The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. Transthyretin amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, due to the deposition of transthyretin (TTR), which is a transport protein mainly synthesized in the liver but also in the retinal pigment epithelial cells. ATTRv amyloidosis may be misdiagnosed with several other conditions, resulting in a significant diagnostic delay. Gelsolin and keratoepithelin are other proteins that, when mutated, are responsible for a systemic amyloid disease with significant ocular manifestations that not infrequently appear before systemic involvement. The main signs of ocular amyloid deposition are in the cornea, irido-corneal angle and vitreous, causing complications related to vasculopathy and neuropathy at the local level. This review aims at describing the main biochemical, histopathological and clinical features of systemic amyloidosis associated with eye involvement, with particular emphasis on the inherited forms. We discuss currently available treatments, focusing on ocular involvement and specific ophthalmologic management and highlighting the importance of a prompt treatment for the potential sight-threatening complications derived from amyloid deposition in ocular tissues.

Purpose: To evaluate choroidal thickness (CT) in retinitis pigmentosa (RP) using enhanced depth imaging (EDI) optical coherence tomography (OCT). Methods: A retrospective analysis of a group of patients with RP who underwent EDI-OCT was performed. Choroidal thickness measurements were compared with those of age- and sex-matched healthy subjects. In the RP group, the possible association between subfoveal CT and some clinical parameters (visual acuity, age, age at disease onset, duration of the disease, macular thickness, visual field loss, electroretinography [ERG]) was evaluated. Results: The study recruited 39 patients with RP with an average age of 43.3 ± 11.3 years while the control group consisted of 73 healthy subjects with an average age of 42.9 ± 12.10 years. On average, CT was significantly thinner in the RP group compared to the controls (p<0.0001). In the RP group, we could not find any significant association between CT and the considered clinical parameters even if there was a trend for decreasing CT with increasing age (r = −0.23, p = 0.096). In the control group, subfoveal CT showed a slightly significant correlation with age (r = −0.21, p = 0.04) but not with macular thickness and visual acuity. Conclusions: In our series, CT was significantly lower in the RP group in comparison with the controls, as measured by EDI-OCT, but did not correlate with age, age at onset, duration of the disease, macular thickness, visual acuity, visual field loss, or ERG responses. Although the clinical implications of choroidal changes in RP have not yet been clearly determined, the evaluation of choroidal features may provide information that could be useful to clarify the pathophysiology of the disease.

Background: The aim of the study was to evaluate pre-operative and post-operative retinal vasculature using optical coherence tomography angiography (OCTA) in patients who underwent rhegmatogenous retinal detachment (RRD) surgery repair. Materials and Methods: A total of 33 eyes were included in this prospective consecutive observational study: 15 affected by macula-ON and 18 by macula-OFF RRD. Superficial (SCP), deep capillary plexus (DCP), and foveal avascular zone (FAZ) area variations were evaluated by OCTA and correlated with visual acuity (VA) during a six-month follow-up. Results: In the macula-ON group, the preoperative vascular density (VD) of the whole SCP (wSCP) on affected eyes was lower than that of the fellow eyes (p < 0.05); this difference disappeared at 6 months after surgery (p = 0.88). The wSCP VD and the parafoveal SCP (pfSCP) VD increased during follow-up (p < 0.05); moreover, the higher the preoperative wSCP and pfSCP VD, the better the baseline VA (p < 0.05). In the macula-OFF group, at the first and sixth months after surgery, the larger the FAZ, the lower the VA (p < 0.05). Conclusions: Macula-ON SCP VD affected preoperative VA, and it was lower than the fellow eye, but recovered over time. In the macula-OFF group, a larger FAZ area was related to a worse VA, as is the case in diabetes and in retinal vein occlusion (RVO).