To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pigmentosa (RP) linked to PRPH2 pathogenic variant, with follow-up and management of both eyes. Observational case report. A 40-year-old female with history of autosomal dominant RP consulted for acute visual loss in her right eye (RE). Multimodal imaging including OCT-A confirmed the diagnosis of active type 2 CNV in the RE and highlighted an incidental asymptomatic non-exudative “quiescent” CNV in the left eye (LE). This complication was managed by intra-vitreal Bevacizumab injections in the RE and regular monitoring of the LE. Frequent follow-up could detect early CNV activation signs in LE allowing early treatment. Mutation analysis of PRPH2 exons identified a known heterozygous pathogenic missense variation c.646C>T, p.P216S in exon 2. Multimodal imaging and especially OCT-A can be of a great help in the diagnosis and the management of CNV complicating RP, even at the stage of quiescent CNV. In presence of neovascular complication, PRPH2 gene should be investigated because of its frequent macular involvement despite high phenotypic variability.

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: To investigate choroidal involvement in eyes of patients treated with hydroxychloroquine (HCQ), by quantifying the choroidal vascularity index (CVI) and other choroidal biomarkers. Methods: Vertical enhanced depth imaging spectral domain optical coherence tomography (SD-OCT) scans were performed in eyes with either advanced-stage or mild HCQ toxic retinopathy, as well as in healthy age-matched and sex-matched controls. Based on SD-OCT scans, the subfoveal and mean choroidal thickness (ChT) was measured. The CVI, total choroidal area (TCA), luminal choroidal area (LCA), and stromal choroidal area (SCA) were calculated based on a binarization image process. These variables were computed and compared between the three groups (i.e., advanced stage, mild toxicity, and healthy controls). Results: Forty-eight eyes of 47 patients under HCQ (26 eyes presented with advanced stage HCQ toxicity and 22 eyes with mild toxicity) and 34 eyes of 31 healthy controls were included. Both CVI and ChT were significantly different between the three groups (P < 0.001, P < 0.001). When comparing the advanced stage toxicity group to healthy controls, both the subfoveal and the mean ChT were diminished (P < 0.001). The CVI, TCA, LCA, and SCA were significantly lower in the advanced stage of toxicity group when compared with controls (P < 0.001, <0.00001, <0.0001, and P = 0.0094, respectively). Conclusion: Our study suggests that eyes with HCQ toxic retinopathy, especially at advanced stages, present with choroidal impairment, giving further pathophysiological insights into the unfolding of this retinal toxicity.

Purpose: to quantitatively analyze choriocapillaris perfusion using swept-source optical coherence tomography angiography (SS-OCTA) in eyes presenting with angioid streaks in comparison with control eyes. Methods: Macular 6 × 6 mm SS-OCTA scans were retrospectively analyzed in eyes with angioid streaks and in control eyes. En face choriocapillaris flow images were compensated with en face choriocapillaris structure images, followed by the Phansalkar local thresholding method (with a window radius of four and eight pixels). Quantitative analysis was performed in the four peripheral 1 × 1 mm corners of the 6 × 6 mm SS-OCTA image to include equidistant and comparable regions. The percentage of flow deficits (FD%), the number and size of the flow deficits (FDs) and the total area of FDs were then calculated. Results: 54 eyes of 31 patients were included in the study: 27 eyes diagnosed with angioid streaks and 27 controls. Analysis of the four 1 × 1 mm peripheral corners of the 6 × 6 mm SS-OCTA image showed that eyes with angioid streaks had a higher FD% compared to the control group (47.62 ± 8.06 versus 38.90 ± 6.38 using a radius of four pixels (p < 0.001); 48.37 ± 7.65 versus 39.66 ± 6.51 using a radius of eight pixels (p < 0.001). The average size of FDs as well as the total area size of the FDs were significantly higher in eyes with angioid streaks compared to control eyes (p < 0.001). Eyes with angioid streaks present reduced choriocapillaris flow compared to control eyes. Decreased choriocapillaris perfusion may contribute, among other factors, to the development of neovascularization and atrophy in patients with angioid streaks.

Purpose: To describe the follow-up of large colloid drusen (LCD) through multimodal imaging over a 10-year follow-up period. Materials and Methods: Medical records of patients with a history of LCD were retrospectively analyzed. Inclusion criteria were the presence of bilateral LCD diagnosed at least 10 years before inclusion, having undergone baseline multimodal imaging, including color fundus photography (CF), fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) and indocyanine green angiography (ICGA). Ten-year follow-up multimodal imaging included CF, FAF, SD-OCT and swept-source OCT angiography (SS-OCTA). The 10-year FAF pattern and the presence of macular neovascularization (MNV) and/or atrophy were assessed. Results: Twelve eyes of 6 patients were included in this study. The mean age at diagnosis was 47.83 +/- 7.8 SD years. Best-corrected visual acuity (BCVA) was 0 log MAR at baseline and 0.05 +/- 0.083 log MAR at 10-year follow-up. BCVA at follow-up was maintained at 20/20 in 6 eyes. On SD-OCT, LCDs resorbed in 6 out of 12 eyes, with the development of outer retinal atrophy in 2 eyes and with no atrophy in 4 eyes. Hyperreflective foci (HRF) were noted in 4 eyes. An increase in the height and reflectivity of LCD were found in 2 eyes and coalesced LCDs in 2 eyes. FAF revealed either the persistence of the same pattern of autofluorescence or a speckled autofluorescence of the surrounding ring of LCD. SS-OCTA analysis revealed the presence of a unique case of nonexudative MNV in one out of 12 eyes (8,3%). No cases of fibrosis were detected. Conclusion: Over a 10-year multimodal imaging follow-up, LCDs were frequently resorbed. While outer retinal atrophy was occasionally noted, no complete atrophy occurred. Neovascular complications were limited to nonexudative MNV, with no active lesions observed. The 10-year prevalence of nonexudative MNV was 7%. Overall, LCDs showed a more favorable prognosis regarding atrophy and neovascularization compared to other early-onset drusen types.

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.