scholarly journals Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1795
Author(s):  
Khaled El Matri ◽  
Yousra Falfoul ◽  
Imen Habibi ◽  
Ahmed Chebil ◽  
Daniel Schorderet ◽  
...  
Keyword(s):  
Multimodal Imaging ◽  
Brain Magnetic Resonance Imaging ◽  
Pathogenic Variant ◽  
Macular Dystrophy ◽  
Macular Telangiectasia ◽  
Whole Exome ◽  
En Face Oct ◽  
En Face ◽  
Capillary Plexus ◽  
The Right

Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of CYP2U1 related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed with complete multimodal imaging including optical coherence tomography angiography (OCT-A). Case presentation: A twelve-year-old boy from a non-consanguineous family complained of bilateral progressive visual loss and photophobia. The best-corrected visual acuity was 2/10 on the right eye and 3/10 on the left eye. Fundus examination showed central pigmented fibrotic macular scar and yellowish punctuate deposits in both eyes. En face OCT-A detected typical macular telangiectasia (MacTel) in both eyes with dilated telangiectatic capillaries in the deep capillary plexus associated with vascular anomalies in the superficial and deep capillary plexus. Typical hypo-reflective cavities were observed within the inner foveal layers on structural OCT. En face OCT-A also confirmed the presence of bilateral inactive CNV within the fibrotic scars, showing high-flow vascular network at the level of the subretinal hyperreflective lesions. Whole exome sequencing identified a known homozygous pathogenic variant in CYP2U1 gene (c.1168C > T, p.Arg390*), which is a disease-causing mutation in autosomal recessive spastic paraplegia type 56 (SPG56). The neurological examination was normal, and electromyography and brain magnetic resonance imaging were unremarkable as well. Conclusion: Macular dystrophy can be the first manifestation in SPG56. A particular phenotype with MacTel was observed, and neovascular complications are possible. CYP2U1 should be included in the panels of genes tested for macular dystrophies, especially in the presence of MacTel and/or neurological manifestations.

scholarly journals Multimodal imaging for paracentral acute maculopathy; the diagnostic role of en face OCT

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Hamid Riazi-Esfahani ◽  
Elias Khalili Pour ◽  
Kaveh Fadakar ◽  
Nazanin Ebrahimiadib ◽  
Fariba Ghassemi ◽  
...  
Keyword(s):  
Multimodal Imaging ◽  
Case Series ◽  
Underlying Disease ◽  
Vascular Density ◽  
En Face Oct ◽  
En Face ◽  
Diagnostic Role ◽  
Capillary Plexus ◽  
Cilioretinal Artery

Abstract Background To describe the features of multimodal imaging and the diagnostic role of en face OCT in the paracentral acute middle maculopathy (PAMM) spectrum. Methods In this observational case series, 5 eyes of 5 patients with acute PAMM were identified. Demographic characteristics as well as data regarding the underlying disease, presenting visual acuity (VA) and ophthalmic examination results were recorded. All patients underwent multimodal imaging within 3 days after symptom onset. Results The mean age of patients was 52.2 (range, 33–67) years. Systemic comorbidities including diabetes mellitus and hypertension were identified in two patients. Except for one patient diagnosed with isolated PAMM, other patients had signs of retinal vascular disease such as a cilioretinal artery or branch retinal artery obstruction, non-ischemic central retinal vein occlusion, or a combination of these vascular disorders. The central vision was preserved in two cases; however, the remaining cases presented with profound VA reduction. Different patterns of PAMM including arterial, globular, and fern-like were observed in en face OCT at deep capillary plexus (DCP) level. En face OCT images could precisely delineate the margin of the PAMM area. Optical coherence tomography angiography (OCTA) showed decreased vascular density in DCP. Unresolved projection artifact by conventional OCTA software was observed in DCP and choriocapillaris slabs in all cases. Conclusion En face structural OCT in PAMM can delineate the area of ischemia and the degree of foveal involvement. Unresolved projection artifact by conventional OCTA software in the PAMM area can be seen in DCP and choriocapillaris layers.

scholarly journals Myopic Simple Hemorrhage Presenting as Radial Hemorrhage in Henle’s Fiber Layer

2021 ◽  
pp. 446-450
Author(s):  
Marco Mazzola ◽  
Laura Premoli ◽  
Cristian Metrangolo ◽  
Jennifer Cattaneo ◽  
Elias Premi ◽  
...  
Keyword(s):  
High Myopia ◽  
Sudden Onset ◽  
Fiber Layer ◽  
Characteristic Finding ◽  
Macular Telangiectasia ◽  
Complete Restoration ◽  
Retinal Capillary ◽  
Capillary Plexus ◽  
Specific Sign ◽  
The Right

This case report describes a simple hemorrhage (SH) presenting as radial hemorrhage in Henle’s fiber layer (HFL) in a patient with high myopia. A 26-year-old girl with high myopia was referred to our center for sudden onset of decreased vision and a central scotoma in the right eye (OD). Best corrected visual acuity (BCVA) was 20/100 OD. Fundus examination showed a stellate intraretinal hemorrhage in the fovea of the OD. The hemorrhage was organized in a peculiar petaloid pattern with feathery distal edges, suggesting localization within the radially oriented HFL. The presence of both choroidal neovascularization and microvascular abnormalities consistent with macular telangiectasia type 2 (MacTel 2) were excluded. Based on these findings, a diagnosis of myopic SH was made. At 4-month follow-up BCVA OD spontaneously improved to 20/40, without any treatment been ever administered to the patient. Spectral-domain optical coherence tomography OD showed reabsorption of the hemorrhage and almost complete restoration of the foveal architecture. The intraretinal location and spread of the hemorrhage into the HFL in our patient are an unusual presentation of SH, which vividly highlights the anatomy of the fovea. Since fibers in HFL are quite delicate and loosely arranged, this layer is very susceptible to deposition of transudates, exudates, hemorrhage, and other products. Radial hemorrhage in HFL has been originally reported in 4 patients as complication of MacTel 2. It has been previously postulated that it may represent a characteristic finding in MacTel 2 that may develop as a result of microvascular abnormalities of the deep retinal capillary plexus. On the contrary, our data suggest that radial hemorrhage in the HFL does not represent a characteristic finding of MacTel 2, but must rather be considered a non-specific sign with multiple possible etiologies.

scholarly journals Artifact Removed Quantitative Analysis Of Choriocapillaris Flow Voids

2021 ◽  
Author(s):  
M. Giray Ersoz ◽  
Mumin Hocaoglu ◽  
Isil Sayman Muslubas ◽  
Serra Arf ◽  
Erdost Yildiz ◽  
...  
Keyword(s):  
Optical Coherence Tomography Angiography ◽  
Autosomal Dominant ◽  
Pigment Epithelium ◽  
Subretinal Fluid ◽  
Outer Retina ◽  
En Face Oct ◽  
En Face ◽  
Capillary Plexus ◽  
Vitreous Opacities ◽  
Superficial Capillary Plexus

Abstract Purpose: To investigate choriocapillaris flow voids (FV) with a new optical coherence tomography angiography (OCTA) image processing strategy to exclude artifacts due to vitreous opacities, subretinal pigment epithelium (sub-RPE) fluid and deposits, and subretinal fluid (SRF) by thresholding the en-face OCT image of the outer retina.Methods: This retrospective study included 15 eyes with drusen and 15 eyes with SRF. Number (FVn), average area (FVav), and maximum area (FVmax) of FV and the percentage of the nonperfused choriocapillaris area (PNPCA) obtained using the proposed strategy were compared with those obtained by removing only artifacts due to superficial capillary plexus (SCP).Results: There were three eyes with autosomal dominant drusen and 12 eyes with drusen secondary to non-exudative AMD in the drusen group. SRF group included 15 eyes with active central serous chorioretinopathy. PNPCA, FVav, FVmax, and FVn obtained using the algorithm were significantly lower than those obtained by removing only SCP in both groups (all p< 0.05). The algorithm was able to remove 94.7% of artifacts secondary to vitreous opacities and all artifacts secondary to serous pigment epithelial detachments. Conclusion: Nonperfusion areas of choriocapillaris may be overestimated in eyes with RPE abnormalities and SRF. These areas can be removed using thresholded images of the outer retina en-face OCT scans.

Macular Telangiectasia Type 2 With Spontaneous Resolution of Intraretinal/Sub-Internal Limiting Membrane Hemorrhage in the Absence of Neovascularization

2017 ◽  
Vol 1 (6) ◽  
pp. 415-419 ◽  
Author(s):  
Varun Chandra ◽  
Rohan Merani ◽  
Alex P. Hunyor ◽  
I-Van Ho ◽  
Mark Gillies
Keyword(s):  
Visual Acuity ◽  
Multimodal Imaging ◽  
Internal Limiting Membrane ◽  
Macular Telangiectasia ◽  
Corrected Visual Acuity ◽  
Visual Improvement ◽  
Macular Telangiectasia Type 2 ◽  
The Right

Purpose: To describe a case of macular telangiectasia type 2 (MacTel) presenting with decreased vision due to intraretinal/sub-internal limiting membrane (ILM) hemorrhage in the absence of neovascularization. Method: Clinical examination and multimodal imaging were performed. Results: A 65-year-old female presented with blurred left vision, recording 20/160 in that eye. There was intraretinal hemorrhage at the left macula centrally, with sub-ILM hemorrhage superiorly and inferiorly. Optical coherence tomography (OCT) showed no evidence of subretinal neovascularization. Imaging of the right macula was consistent with MacTel. The blood spontaneously cleared and the left visual acuity gradually improved to 20/25 by 4 months. Fluorescein angiography confirmed MacTel, and once the hemorrhage resolved, both inner and outer retinal cavitation was identified on OCT of the left macula. The left best-corrected visual acuity remained at 20/25 at 2-year follow-up. Conclusion: Spontaneous resorption of hemorrhage was accompanied by visual improvement.

scholarly journals OCT Angiography and En Face OCT Reflectance Aid in Monitoring Subclinical Inflammation in Serpiginous Choroidopathy

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Carl S. Wilkins ◽  
Jorge S. Andrade Romo ◽  
Toco Y. P. Chui ◽  
Richard B. Rosen ◽  
Stephanie Llop
Keyword(s):  
Disease Progression ◽  
Transition Zone ◽  
Multimodal Imaging ◽  
Primary Site ◽  
Subclinical Inflammation ◽  
Case Presentation ◽  
Normal Retina ◽  
Subclinical Disease ◽  
En Face Oct ◽  
En Face

Introduction. We present a case of serpiginous choroidopathy (SC) with novel OCTA and en face OCT reflectance findings which help identify subclinical disease progression. Case Presentation. En face OCT reflectance images demonstrated outer retinal tubules (ORT) at the serpiginous lesion margins of affected and unaffected retina on multimodal imaging. OCTA findings demonstrate variable dropout of choriocapillaris in “normal” retina beyond lesion borders which was not visible on standard imaging and which demonstrated a clear transition zone beyond the ORT. Discussion. This is the first report of choriocapillaris atrophy identified on OCTA not identified on traditional multimodal imaging in serpiginous choroidopathy. Damage to vasculature only visible with OCTA may help characterize the distribution of inflammation, aiding in monitoring of suppression not illustrated by traditional imaging and which may threaten the central macula. ORT in SC suggest death and reorganization of outer segments from dysfunction of the choriocapillaris and RPE, as well as serve to demarcate the area of chronic or old inflammation, supporting the hypothesis that the choriocapillaris is the primary site of inflammation in SC. Based on these findings, we recommend OCTA on all patients with serpiginous choroidopathy to monitor underlying state of inflammation and help determine immunosuppressive threshold.

scholarly journals Multimodal Imaging Analysis in a Case with Congenital Fovea-Involving Retinal Macrovessel and Excellent Visual Acuity

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Vishal Shah ◽  
M. Ashwin Reddy ◽  
Vasilios P. Papastefanou
Keyword(s):  
Visual Acuity ◽  
Oct Angiography ◽  
Foveal Avascular Zone ◽  
Swept Source ◽  
En Face Oct ◽  
En Face ◽  
Avascular Zone ◽  
Capillary Plexus ◽  
Swept Source Oct ◽  
Swept Source Oct Angiography

Purpose. Congenital retinal macrovessels (CRM) represent rare aberrant vasculature of the retinal vessels that can supply or drain the macula. In this report, the optical coherence tomography angiography features of a congenital retinal macrovessel are discussed. Methods. The history and examination findings are presented alongside swept-source OCT angiography with corresponding B scan and en face OCT imaging. Patients. The case is a 12-year-old female patient with excellent best-corrected visual acuity in both eyes. Results. Swept-source OCT angiography demonstrated considerable loss of the foveal avascular zone at the levels of the superficial and deep capillary plexus. Discussion. In this case there was no detrimental effect on vision despite anatomical loss of the foveal avascular zone.

scholarly journals Bilateral Type 1 Idiopathic Macular Telangiectasia in a Female Patient: Multimodal Imaging of a Rare Presentation

2021 ◽  
pp. 373-379
Author(s):  
Mohamad Reza Niyousha ◽  
Narges Hassanpoor ◽  
Sasan Jafari
Keyword(s):  
Optical Coherence Tomography ◽  
Macular Edema ◽  
Female Patient ◽  
Multimodal Imaging ◽  
Rare Presentation ◽  
Macular Telangiectasia ◽  
Healthy Female ◽  
Capillary Plexus ◽  
Idiopathic Macular Telangiectasia

We report a bilateral case of type 1 idiopathic macular telangiectasia (IMT) in a female patient. A 40-year-old otherwise healthy female with gradual vision loss since 2 years ago with best-corrected visual acuity of 20/400 in both eyes was referred. Her past medical history was negative for any systemic disease including diabetes and systemic hypertension. Color fundus photography showed bilateral loss of normal foveal reflex with macular edema. Fluorescein angiography demonstrated symmetric perifoveal telangiectasia mainly in the superior and nasal macula in both eyes with late staining and leakage. Spectral-domain optical coherence tomography revealed significant intraretinal fluid bilaterally and subretinal fluid in the left eye. Optical coherence tomography angiography (OCTA) revealed obvious saccular parafoveal capillary telangiectasia and capillary dropout as well as decreased vascular density in both superficial and deep capillary plexus. Deep capillary plexus involvement in OCTA was more evident than superficial plexus. Based on the patient’s medical history and multimodal imaging, the diagnosis of bilateral IMT type 1 was made. The patient underwent 5 intravitreal monthly injection of bevacizumab in both eyes, which resulted in macular edema resolution. However, after 3 months of discontinuation of intravitreal bevacizumab, macular edema relapsed. In conclusion, type 1 IMT can occur bilaterally in an otherwise healthy female patient as a very rare presentation. To the best of our knowledge, this case is the 4th case of bilateral type 1 IMT reported in a female.

scholarly journals Multimodal imaging for the assessment of geographic atrophy in patients with ‘foveal’ and ‘no foveal’ sparing.

2020 ◽  
Author(s):  
Stamatina A. Kabanarou ◽  
Georgios Bontzos ◽  
Tina Xirou ◽  
Zoi Kapsala ◽  
Eleni Dimitriou ◽  
...  
Keyword(s):  
Multimodal Imaging ◽  
Geographic Atrophy ◽  
Age Related Macular Degeneration ◽  
Imaging Modalities ◽  
Separate Analysis ◽  
Imaging Protocol ◽  
Significant Difference ◽  
En Face Oct ◽  
En Face ◽  
Foveal Sparing

INTRODUCTION To evaluate the applicability of optical coherence tomography-angiography (OCT-A) for measuring geographic atrophy (GA) areas in age-related macular degeneration (AMD) patients with ‘foveal’ and ‘no foveal’ sparing disease and compare it to other imaging modalities. METHODS A multimodal imaging protocol was applied, using infrared imaging (IR), fundus autofluorescence (FAF), OCT-A and en-face OCT in 35 eyes of 23 AMD patients with GA. Patients were classified in two groups, with and without foveal sparing disease. GA area measurements for all imaging modalities were compared for each group separately. RESULTS The measured GA area was estimated 6.68 ± 3.18 mm2using IR; 6.99 ± 3.09 mm2 using FAF; 6.56 ± 3.11 mm2 using OCT-A and 6.65 ± 3.14 mm2using en-face OCT. There was no statistically significant difference in GA area between different modalities (p=0.977). When separate analysis was conducted for patients with ‘foveal’ and ‘no foveal’ sparing disease, although GA measurements in FAF imaging displayed higher numerical values compared to the other modalities, especially in patients with foveal sparing, no statistically significant difference in GA area was found between the different imaging modalities in either group (p=0.816 for foveal sparing; p=0.992 for no foveal sparing group). CONCLUSIONS OCT-A can be reliably used in the assessment of GA in AMD patients with and without foveal sparing disease. For both groups, measurements are comparable to IR, en-face OCT and FAF, despite the fact that the latter recorded larger area of GA, mainly in the foveal sparing cases.

scholarly journals “En face” OCT Imaging of the IS/OS Junction Line in Type 2 Idiopathic Macular Telangiectasia

2012 ◽  
Vol 53 (10) ◽  
pp. 6145 ◽  
Author(s):  
Ferenc B. Sallo ◽  
Tunde Peto ◽  
Catherine Egan ◽  
Ute E. K. Wolf-Schnurrbusch ◽  
Traci E. Clemons ◽  
...  
Keyword(s):  
Macular Telangiectasia ◽  
En Face Oct ◽  
En Face ◽  
Idiopathic Macular Telangiectasia ◽  
Oct Imaging

scholarly journals En Face Optical Coherence Tomography Imaging of the Choroid in a Case with Central Serous Chorioretinopathy during the Course of Vogt-Koyanagi-Harada Disease: A Case Report

2015 ◽  
Vol 6 (3) ◽  
pp. 488-494 ◽  
Author(s):  
Yuki Komuku ◽  
Chiharu Iwahashi ◽  
Shinsaku Yano ◽  
Chika Tanaka ◽  
Tomoya Nakagawa ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Central Serous Chorioretinopathy ◽  
Serous Retinal Detachment ◽  
Steroid Treatment ◽  
Optical Coherence ◽  
En Face Oct ◽  
En Face ◽  
The Right ◽  
Choroidal Vessels ◽  
Vkh Disease

Vogt-Koyanagi-Harada (VKH) disease and central serous chorioretinopathy (CSC) develop serous retinal detachment; however, the treatment of each disease is totally different. Steroids treat VKH but worsen CSC; therefore, it is important to distinguish these diseases. Here, we report a case with CSC which was diagnosed by en face optical coherence tomography (OCT) imaging during the course of VKH disease. A 50-year-old man was referred with blurring of vision in his right eye. Fundus examination showed bilateral optic disc swelling and macular fluid in the right eye. OCT showed thick choroid, and en face OCT images depicted blurry choroid without clear delineation of choroidal vessels. Combined with angiography findings, this patient was diagnosed with VKH disease and treated with steroids. Promptly, fundus abnormalities resolved with the reduction of the choroidal thickness and the choroidal vessels became visible on the en face images. During the tapering of the steroid, serous macular detachment in the right eye recurred several times. Steroid treatment was effective at first; however, at the fourth appearance of submacular fluid, the patient did not respond. At that time, the choroidal vessels on the en face OCT images were clear, which significantly differed from the images at the time of recurrence of VKH. Angiography also suggested CSC-like leakage. The tapering of the steroids was effective in resolving the fluid. Secondary CSC may develop in the eye with VKH after steroid treatment. En face OCT observation of the choroid may be helpful to distinguish each condition.

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