To report an unusual association of a perifoveal exudative vascular anomalous complex (PEVAC) and a bilateral pachychoroid pigment epitheliopathy (PPE), which responded positively to anti-vascular endothelial growth factor (VEGF) intravitreal injections (IVI). A 44 year-old man with no significant medical or ocular history, complained of unilateral blurred vision in his right eye (RE) over several months. On examination, best corrected visual acuity (BCVA) was 75 letters in the RE and 85 in the left eye (LE). Fundus examination in the RE showed a large perifoveal aneurysmal lesion with a macular thickening, small hemorrhages and linear hard exudates accumulation, associated with multifocal retinal pigment epithelium (RPE) changes in the posterior pole of both eyes. Optical coherence tomography of the RE showed the PEVAC as a large round retinal capillary aneurysm with surrounding intraretinal fluid, associated with serous and drusenoid RPE elevations in both eyes, consistent with PPE. Subfoveal choroidal thickness was more than 500 μm in both eyes, with several dilated choroidal veins. Fluorescein angiography showed, in the RE, the hyperfluorescent aneurysmal lesion with late leakage, associated with scattered hyperfluorescent areas in the posterior pole of both eyes. Indocyanine green angiography showed, in the RE, the same hyperfluorescent lesion but without leakage, associated with areas of choroidal hyperpermeability in both eyes. After 2 anti-VEGF IVI in the RE, good functional and anatomical improvement was observed. After 10 months of follow-up, there was no evidence of new exudation. BCVA remained stable and RPE abnormalities remained unchanged. We describe an atypical case of PEVAC associated with PPE, which responded positively to anti-VEGF therapy. To our knowledge, this is the first report of a patient presenting PEVAC and diseases of the pachychoroid spectrum. Further studies, assessing the choroid in PEVAC, are required to investigate the hypothetical relationship between these 2 entities and the efficiency of anti-VEGF therapy.

This study aims to quantitatively analyze choriocapillaris (CC) alterations using swept-source optical coherence tomography angiography (SS-OCTA) in eyes presenting with hydroxychloroquine (HCQ) toxic retinopathy and to compare it to patients under HCQ without toxic retinopathy and to healthy controls. For image analysis, CC en-face slabs were extracted from macular 6 × 6 mm SS-OCTA scans and a compensation method followed by the Phansalkar local thresholding was performed. Percentage of flow deficits (FD%) and other related biomarkers were computed for comparison. Fourteen eyes (7 patients) presenting with HCQ toxic retinopathy, sixty-two eyes (31 patients) under HCQ without signs of toxicity, and sixty eyes of 34 healthy controls were included. With regards to FD%, FD average size, and FD number there was a significant difference between the three groups (p < 0.05 with radius 4 and radius 8 pixels). Eyes presenting with HCQ toxicity had significantly higher FD% and average size, and a significantly lower number of FDs, with both radius 4 and 8 pixels. In conclusion, FD quantification demonstrates that CC involvement is present in HCQ toxic retinopathy, therefore giving pathophysiological insights with regards to the CC as being either the primary or secondary target of HCQ toxicity.

Purpose: Down syndrome (DS) is one of the most prevalent genetic diseases associated with a variety of ophthalmic disorders, including reported retinal abnormalities. Macular telangiectasia type 2 (MacTel 2) is a late-onset neurodegenerative retinal disease with a substantial genetic component. We hereby describe a case of a female with DS who presented with MacTel 2, and we discuss the possible pathways associating both entities. Observation: We report the case of a 49-year-old female with a medical history of DS and hydroxychloroquine (HCQ) intake. She was referred for HCQ retinal toxicity screening. The multimodal imaging revealed a temporal perifoveal gray area with crystal deposits on multicolor fundoscopy with parafoveal outer retinal atrophy and ellipsoid zone loss with inner retinal cavitations in both eyes on the optical Coherence Tomography (OCT) B scan. The corresponding swept-source OCT angiography confirmed the presence of bilateral macular telangiectasia. Conclusion: and importance: Metabolic pathways including serine/glycine and sphingolipids are incriminated in both entities' pathogenesis suggesting a possible association, hence, the importance of raising awareness of this association. More cases are likely to be found since DS patients currently have a nearly normal lifespan. Additional retinal examination of DS adults is then necessary to look for signs of MacTel 2.