Pachychoroid neovascular membrane in a patient with sickle cell disease trait.

PURPOSE: To describe a rare presentation of pachychoroid neovascular membrane in a patient with sickle cell trait and the accuracy of ruling out hemoglobinopathies in the presentation of pachychoroid spectrum. METHODS: The patient was subjected to physical examinations, multimodal images (fluorescein angiography, optical coherence tomography), hemoglobin electrophoresis, and peripheral blood smear, documenting sickle cell trait. The management included laser treatment to target non-perfusion areas, along with a single dose of anti-VEGF. RESULTS: A 45-year-old male patient with diagnosis of pachychoroid neovascularization treated for 6 years with multiple anti VEGF injections in the left eye. A detailed clinical evaluation included hypochromic conjunctiva, peripheral vascular occlusion with non-perfusion areas led us to suspect sickle cell disease retinopathy. The images of fluorescein angiography showed peripheral arteriovenous anastomosis with non-perfusion areas; the optical coherence tomography revealed a thinner neuroepithelium with a thicker choroid; also, hemoglobin electrophoresis and peripheral blood smear documenting sickle cell trait. The chosen management was photocoagulation of the peripheral retina on the non-perfusion areas and anti VEGF without neovascular activity recurrence in the follow up period. CONCLUSION: Although sickle cell trait is considered a mild form of this pathology without serious retinal manifestations, it has to be noted that in the context of pachychoroid spectrum diseases is a trigger that could perpetuate retinal ischemia and neovascular activity.

Macular thickness and visual acuity are characterized by a quadratic nonlinear relation in previously treated neovascular AMD eyes.

PURPOSE: To assess the associations between visual acuity (VA) and retinal thickness in age-related macular degeneration (AMD) eyes treated with anti-vascular endothelial growth factor (VEGF) therapy. METHODS: Sixty-eight patients with neovascular AMD (68 eyes) undergoing anti-VEGF therapy with two years of follow-up imaging data after the initiation of treatment were retrospectively included. Linear and nonlinear regression analyses with curve fitting estimation were performed to explore the relationship between visual acuity and OCT-based parameters at the 3-month and 24-month follow-up visits. Regression analyses were also performed between visual acuity and the retinal thickness deviation which was calculated as the absolute value of the difference between measured and normative retinal thickness values. RESULTS: The VA was not associated with either foveal (R2 = 0.011 and p = .401 at 3 months; R2 = 0.032 and p = .142 at 24 months) or parafoveal (R2 = 0.045 and p = .081 at 3 months; R2 = 0.050 and p = .055 at 24 months) retinal thicknesses. Compared with the linear models, a quadratic function yielded a relative increase in the R2 coefficients. Conversely, the VA was linearly associated with foveal retinal thickness deviation (R2 = 0.041 and p = .037 at 24 months) and parafoveal retinal thickness deviation (R2 = 0.062 and p = .040 at 3 months; R2 = 0.088 and p = .014 at 24 months) values. CONCLUSIONS: Although there was no linear relationship between retinal thickness and VA, a weak but statistically significant linear relationship could be observed when a retinal thickness deviation was considered. This suggests that deviation-based parameters may be beneficial for structure-function correlations in the context of anti-VEGF therapy for neovascular AMD.

Punctate Inner Choroidopathy (PIC) disease recurrence with inflammatory choroidal neovascular membrane (iCNVM) post-COVID-19 vaccine.

PURPOSE: To report a recurrence of punctate inner choroidopathy (PIC) with an inflammatory choroidal neovascular membrane (iCNVM) after the Pfizer-BioNTech COVID-19 vaccine. METHODS: Case report. RESULTS: A 38-year-old female with a history of myopia and previous episodes of PIC and iCNVM presented with distorted vision in her right eye, seven days after receiving the first dose of the Pfizer-BioNTech COVID-19 vaccine. The patient exhibited active PIC lesions with iCNVM confirmed on multimodal imaging. Treatment with a combination of oral corticosteroids and intravitreal anti-VEGF injection led to disease resolution. Subsequent COVID-19 vaccinations, administered while the patient was immunosuppressed, did not lead to disease relapse. However, relapse occurred following the fourth COVID-19 vaccine, when the patient was not immune suppressed. CONCLUSION: This case highlights the potential risk of PIC disease relapse following COVID-19 vaccination. Further research is needed to investigate the relationship between COVID-19 vaccination and PIC exacerbation, as well as to determine optimal management strategies in this population, including close observation and consideration of prophylactic immune suppression at the time of COVID-19 vaccine for high-risk individuals.

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

INTRODUCTION: Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder originated by disease-causing variants in ABCC6 gene. The purpose of this study was to characterize the genetic landscape, phenotypic spectrum and genotype-phenotype correlations in a Portuguese cohort of PXE patients. METHODS: Multicentric cross-sectional study conducted in patients with a clinical and genetic diagnosis of PXE. Patients were identified using the IRD-PT registry (www.retina.com.pt). Genotypes were classified into 3 groups: (1) two truncating variants, (2) two non-truncating variants, or (3) mixed variants. Deep phenotyping comprised a comprehensive ophthalmologic and systemic evaluation using the updated Phenodex Score (PS). RESULTS: Twenty-seven patients (23 families) were included. Sixteen different ABCC6 variants were identified, 7 of which are novel. The most prevalent variant was the nonsense variant c.3421C > T p.(Arg1141*) with an allele frequency of 18.5%. All patients exhibited ocular manifestations. Cutaneous manifestations were present in most patients (88.9%, n = 24/27). A PS score > E2 was strongly associated with worse visual acuity (B = -29.02; p = 0.001). No association was found between genotypic groups and cutaneous, vascular or cardiac manifestations. CONCLUSIONS: This study describes the genetic spectrum of patients with PXE for the first time in a Portuguese cohort. A total of 16 different variants in ABCC6 were found (7 of which are novel), thus highlighting the genotypic heterogeneity associated with this condition and expanding its mutational spectrum. Still, no major genotype-phenotype associations could be established.

Multimodal imaging of focal choroidal excavation and macular choroidal cavitation associated to choroidal neovascularization.

Purpose: To report multimodal imaging features of an unusual case of multiple focal choroidal excavations (FCE) associated to macular intrachoroidal cavitations (ICC) and choroidal neovascularization (CNV) in a non-myopic patient with normal choroidal thickness. Methods: Observational case report. Results: A 69-year-old non-myopic male patient with history of macular CNV of unknown etiology in the right eye (RE), initially treated with Bevacizumab intravitreal injections with significant improvement of visual acuity. He presented with acute vision loss in the same eye related to recurrent CNV exudation. Multimodal imaging of the RE confirmed the diagnosis of active type 2 CNV, associated to multiple FCE. Besides, it highlighted incidental unusual macular ICC in the same eye. Choroidal thickness was within normal limits (217 µm). Conclusion: Focal choroidal excavations and intrachoroidal cavitations can be observed in emmetropic patients in the absence of pachychoroid disease. In presence of CNV of unknown etiology, complete multimodal imaging can be of a great help to better define choroidal anomalies, allowing structural and vascular correlations between different lesions. Key words: Focal choroidal excavation; Choroidal cavitation; Multimodal imaging.