scholarly journals Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA

Diagnostics ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 777
Author(s):  
Henar Albertos-Arranz ◽  
Xavier Sánchez-Sáez ◽  
Natalia Martínez-Gil ◽  
Isabel Pinilla ◽  
Rosa M. Coco-Martin ◽  
...  

Choroidal dystrophies comprise a group of chorioretinal degenerations. However, the different findings observed among these patients make it difficult to establish a correct clinical diagnosis. The objective of this study was to characterize new clinical findings by optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in these patients. Four family members with a PRPH2 gene mutation (p.Arg195Leu) were included. OCT was performed at the macula, and the thickness of the outer and inner retina, total retina, and choroid was measured. The features of the vascular network were analyzed by OCTA. Patients showed a decreased outer nuclear layer in the avascular area compared with the controls. Two patients presented greater foveal and parafoveal degeneration of the outer retina, whereas the most degenerated area in the rest was the perifovea. Disruption of the third outer band at the foveola is one of the first-altered outer bands. Slow blood flow areas or capillary dropout were main signs in the deep capillary plexus. Microaneurysms were frequently observed in less degenerated retinas. Vascular loops and intraretinal microvascular abnormalities (IRMAs) were present in the superficial plexus. Extensive degeneration of the choriocapillaris was detected. Phenotypic differences were found between patients: two showed central areolar choroidal dystrophy and the rest had extensive chorioretinal atrophy. These signs observed in OCT and OCTA can help to more appropriately define the clinical disease in patients with choroidal dystrophies.

2020 ◽  
Vol 13 (12) ◽  
pp. e238625
Author(s):  
Pulak Agarwal ◽  
Vinod Kumar ◽  
Pallavi Singh ◽  
Mousumi Banerjee

A young man presented with bilateral diminution of vision after acute coronary syndrome. Fundus showed dark wedge-shaped perifoveal lesions in both eyes. Fundus fluorescein angiography and indocyanine angiography were normal. Optical coherence tomography showed characteristic findings of outer nuclear layer thinning and disruption of ellipsoid zone. Optical coherence tomography angiography showed flow voids in deep capillary plexus. A diagnosis of acute macular neuroretinopathy was made. The multimodal imaging findings and pathophysiology of such a scenario are presented.


Diagnostics ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 808
Author(s):  
Max Philipp Brinkmann ◽  
Nikolas Xavier Kibele ◽  
Michelle Prasuhn ◽  
Vinodh Kakkassery ◽  
Mario Damiano Toro ◽  
...  

Optical coherence tomography angiography (OCTA) is a non-invasive tool for imaging and quantifying the retinal and choroidal perfusion state in vivo. This study aimed to evaluate the acute effects of isometric and dynamic exercise on retinal and choroidal sublayer perfusion using OCTA. A pilot study was conducted on young, healthy participants, each of whom performed a specific isometric exercise on the first day and a dynamic exercise the day after. At baseline and immediately after the exercise, heart rate (HR), mean arterial pressure (MAP), superficial capillary plexus perfusion (SCPP), deep capillary plexus perfusion (DCPP), choriocapillaris perfusion (CCP), Sattlers’s layer perfusion (SLP), and Haller’s layer perfusion (HLP) were recorded. A total of 34 eyes of 34 subjects with a mean age of 32.35 ± 7.87 years were included. HR as well as MAP increased significantly after both types of exercise. Both SCPP and DCPP did not show any significant alteration due to isometric or dynamic exercise. After performing dynamic exercise, CCP, SLP, as well as HLP significantly increased. Changes in MAP correlated significantly with changes in HLP after the dynamic activity. OCTA-based analysis in healthy adults following physical activity demonstrated a constant retinal perfusion, supporting the theory of autoregulatory mechanisms. Dynamic exercise, as opposed to isometric activity, significantly changed choroidal perfusion. OCTA imaging may represent a novel and sensitive tool to expand the diagnostic spectrum in the field of sports medicine.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Atsushi Fujiwara ◽  
Yuki Kanzaki ◽  
Shuhei Kimura ◽  
Mio Hosokawa ◽  
Yusuke Shiode ◽  
...  

AbstractThis retrospective study was performed to classify diabetic macular edema (DME) based on the localization and area of the fluid and to investigate the relationship of the classification with visual acuity (VA). The fluid was visualized using en face optical coherence tomography (OCT) images constructed using swept-source OCT. A total of 128 eyes with DME were included. The retina was segmented into: Segment 1, mainly comprising the inner nuclear layer and outer plexiform layer, including Henle’s fiber layer; and Segment 2, mainly comprising the outer nuclear layer. DME was classified as: foveal cystoid space at Segment 1 and no fluid at Segment 2 (n = 24), parafoveal cystoid space at Segment 1 and no fluid at Segment 2 (n = 25), parafoveal cystoid space at Segment 1 and diffuse fluid at Segment 2 (n = 16), diffuse fluid at both segments (n = 37), and diffuse fluid at both segments with subretinal fluid (n = 26). Eyes with diffuse fluid at Segment 2 showed significantly poorer VA, higher ellipsoid zone disruption rates, and greater central subfield thickness than did those without fluid at Segment 2 (P < 0.001 for all). These results indicate the importance of the localization and area of the fluid for VA in DME.


Author(s):  
Marina Concilio ◽  
Federica Fossataro ◽  
Daniela Montorio ◽  
Mariapaola Giordano ◽  
Gilda Cennamo

Abstract Purpose To quantitatively investigate the role of deep capillary plexus (DCP) in patients affected by type 3 macular neovascularization (MNV), compared to patients with reticular pseudodrusen (RPD) eyes and healthy controls, using optical coherence tomography angiography (OCTA). Methods In this prospective observational study, a total of seventy-eight eyes of 78 patients were included. Group 1 consisted of 40 eyes of 40 patients with stage 1 of type 3 MNV (22 males, 18 females, mean age 73.7, SD ± 6.60) and group 2 included 38 eyes of 38 patients with RPD (17 males, 21 females, mean age 73.2, SD ± 4.55). The control group included 40 eyes of 40 healthy subjects (20 males, 20 females, mean age 71.4, SD ± 6.36 years). We evaluated the retinal vessel density (VD) of superficial capillary plexus (SCP) and deep capillary plexus (DCP) using OCTA. Results Patients with diagnosis of type 3 MNV showed statistically lower values of VD in DCP with respect to controls and to RPD group (p < 0.001), while there were no statistical differences between RPD and control group in macular region. No significant differences in VD of SCP were detected among the three study groups. Conclusion OCTA provides a reproducible, non-invasive detailed quantitative analysis of retinal vascular features and changing in early-stage type 3 MNV patients, which allowed to shed the light on the main role of DCP ischemia in the development of type 3 MNV.


2021 ◽  
Vol 10 (12) ◽  
pp. 2658
Author(s):  
Alexis Khorrami Kashi ◽  
Eric Souied ◽  
Selim Fares ◽  
Enrico Borrelli ◽  
Vittorio Capuano ◽  
...  

We evaluated the spectrum of choriocapillaris (CC) abnormalities in the fellow eyes of unilateral exudative age-related macular degeneration (AMD) patients using swept-source optical coherence tomography angiography (SS-OCTA). Fellow eyes of unilateral exudative AMD patients were prospectively included between May 2018 and October 2018. Patients underwent a multimodal imaging including a SS-OCTA. Demographics and clinical findings were analyzed. The estimated prevalence of macular neovascularization (MNV) was computed. Number and size of flow deficits (FDs) and percentage of flow deficits (FD%) were computed on the compensated CC flow images with the Fiji software. We included 97 eyes of 97 patients (mean age was 80 ± 7.66 years, 39 males, 58 females). The prevalence of MNV in the studied eyes was 8.25% (8/97 eyes). In the 89 non-neovascular eyes, FD% averaged 45.84% ± 11.63%, with a corresponding total area of FDs of 4.19 ± 1.12 mm2. There was a higher prevalence of drusenoid pigment epithelial detachment in eyes with subclinical neovascularization (p = 0.021). Fellow eyes with unilateral exudative AMD encompassed a series of CC abnormalities, from FDs of the aging CC to subclinical non-exudative MNV.


Rheumatology ◽  
2021 ◽  
Author(s):  
Adriano Carnevali ◽  
Giuseppe Giannaccare ◽  
Valentina Gatti ◽  
Caterina Battaglia ◽  
Giorgio Randazzo ◽  
...  

Abstract Objectives To investigate subclinical and clinical abnormalities in retinal and choroidal vascular plexuses in patients with SSc by means of optical coherence tomography angiography (OCT-A). Methods A total of 20 consecutive SSc patients were recruited and compared with 20 healthy subjects. Quantitative analysis of vessel density (VD), choriocapillaris plexus flow index (CCP-FI) and choroidal vascularity index were performed on OCT-A images in the superficial capillary plexus (SCP), deep capillary plexus (DCP) and CCP for all patients. Images were further reviewed by two independent readers for the assessment of qualitative abnormalities, including tortuosity, rarefaction areas, megacapillaries and macular-foveal capillaries. Results The DCP-VD in the whole scan and in the perifoveal, superior, inferior, nasal and temporal regions was significantly lower in the SSc group. The CCP-FI was significantly higher in SSc patients. When comparing SSc patients with and without digital ulcers, significantly decreased SCP-VD was demonstrated in the whole, perifoveal, superior, inferior, temporal and nasal regions. No difference in any of the OCT-A parameters was observed when comparing patients with and without interstitial lung disease. Qualitative analysis of OCT-A revealed at least one abnormality in 95% of patients. Conclusion We showed the ability of OCT-A to disclose early ocular vascular abnormalities in patients with SSc. Our results may represent a hypothesis-generating basis for exploring the potential role of OCT-A in diagnosis, monitoring and prognosis stratification in SSc.


2021 ◽  
Vol 14 (5) ◽  
pp. e240208
Author(s):  
Hana A Mansour ◽  
Sami Uwaydat ◽  
Muhamad H Yunis ◽  
Ahmad M Mansour

Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal hypoplasia.


2018 ◽  
Vol 30 (1) ◽  
pp. 48-57 ◽  
Author(s):  
Jaeryung Oh ◽  
Daniel Jinhag Baik ◽  
Jaemoon Ahn

Purpose: To quantify vascular and structural macular variables in healthy eyes and to investigate correlations between these variables and age using optical coherence tomography angiography. Materials and methods: A total of 261 eyes of 261 subjects with normal fundus were included. Central macular thickness, ganglion cell layer to inner plexiform layer thickness, outer retina layer thickness, subfoveal choroidal thickness, and choroidal vascularity index were measured using optical coherence tomography. Foveal avascular zone area, vascular density, and flow void area were measured using optical coherence tomography angiography. Results: Vascular density in the superficial capillary plexus was correlated with central macular thickness, ganglion cell layer to inner plexiform layer thickness, and outer retina layer thickness ( P < 0.001, P = 0.004, and P < 0.001, respectively). Vascular density in the deep capillary plexus was correlated with central macular thickness and outer retina layer thickness ( P = 0.003 and P = 0.001, respectively). Vascular density of choriocapillaris was correlated with vascular density of superficial capillary plexus and deep capillary plexus ( P < 0.001 and P = 0.001, respectively). Conclusion: Vascular density of choriocapillaris varies with retinal vascular density rather than the structure of choroid using optical coherence tomography angiography. In contrast, retinal vascular density changes as the retinal structure. Our results provide more information about the relationship between retina and choroid.


2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Victor M. Villegas ◽  
Jaclyn L. Kovach

Optical coherence tomography angiography (OCTA) is a recently established noninvasive technology for evaluation of the retinal and choroidal vasculature. The literature regarding the findings in macular telangiectasia type 2 (MacTel2) is scarce. We report the OCTA findings associated with a subject with MacTel2 and secondary subretinal neovascularization (SNV). The commercially available Cirrus 5000 with AngioPlex (Zeiss, Jena, Germany) was used, without any subsequent image modification or processing. Subretinal neovascularization was detectable with OCTA at the level of the outer retina and choriocapillaris. Microvascular abnormalities associated with MacTel2 were present mostly in the deep capillary plexus of the retina temporally.


Even though the diagnosis depends on clinical examination, in cases with branch retinal vein occlusion (BRVO), fundus fluorescein angiography (FFA), optical coherence tomography (OCT), and optical coherence tomography angiography (OCTA) provide unique data for follow-up, management and prognosis. In FFA, delay of laminar flow phase in the involved branch, hyperfluorescence due to leakage from the vessel wall in the late phases, hypofluorescence due to the blockage by hemorrhage, and soft exudates, and hyperfluorescence due to macular edema can be detected. In OCT, macular thickening, cystic spaces, serous retinal detachment, hyperreflective dots, disorganization of the outer retinal layers – particularly the photoreceptor inner and outer segments line and the external limiting membrane – can be seen. OCTA reveals non-perfusion, particularly in the deep capillary plexus.


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