scholarly journals Acute Zonal Occult Outer Retinopathy (AZOOR) Results from a Clinicopathological Mechanism Different from Choriocapillaritis Diseases: A Multimodal Imaging Analysis

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1184
Author(s):  
Carl P. Herbort ◽  
Ilir Arapi ◽  
Ioannis Papasavvas ◽  
Alessandro Mantovani ◽  
Bruno Jeannin
Keyword(s):  
Visual Field ◽  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Immunosuppressive Treatment ◽  
Case Series ◽  
Fundus Photography ◽  
Ganglion Cell Complex ◽  
Ophthalmological Examination ◽  
Sequence Of Events

Background and aim: AZOOR is a rare disease characterized by loss of zones of outer retinal function, first described by J Donald Gass in 1993. Symptoms include acute onset photopsias and subjective visual field losses. The syndrome is characterized by a normal fundus appearance, scotomas and electroretinographic changes pointing towards outer retinal dysfunction. Evolution, response to immunosuppressive treatment and outcome are difficult to predict. The aim of this small case series was to identify the morphological changes and sequence of events in AZOOR thanks to multimodal imaging. Methods: Charts of AZOOR patients seen in the Centre for Ophthalmic Specialized care (COS, Lausanne, Switzerland) were analyzed by multimodal imaging including fundus photography, fluorescein angiography (FA), indocyanine green angiography (ICGA), blue light fundus autofluorescence (BL-FAF) and spectral domain optical coherence tomography (SD-OCT) in addition to a complete ophthalmological examination including visual field testing and microperimetry, as well as OCT angiography (OCT-A) and ganglion-cell complex analysis when available. Cases and Results: Three AZOOR patients with a mean follow-up of 47 ± 25.5 months were included following the clinical definitions laid down by J Donald Gass. The primary damage was identified at the level of the photoreceptor outer segments with an intact choriocapillaris and retinal pigment epithelium (RPE) layer, these structures being only secondarily involved with progression of the disease. Conclusion: Although AZOOR has often been included within white dot syndromes, some of which are now known to be choriocapillaris diseases (choriocapillaritis entities), our findings clearly commend to differentiate AZOOR from entities such as MEWDS (Multiple evanescent white dot syndrome), APMPPE (Acute Posterior Multifocal Placoid Pigment Epitheliopathy), MFC (Multifocal Choroiditis) and others, as the damage to photoreceptors is primary in AZOOR (a retinopathy) and secondary in choriocapillaritis (a choriocapillaropathy).

Multimodal imaging evaluation of combined hamartoma of the retina and retinal pigment epithelium

2019 ◽  
Vol 30 (3) ◽  
pp. 595-599 ◽  
Author(s):  
Andrea Scupola ◽  
Gabriela Grimaldi ◽  
Maria G Sammarco ◽  
Paola Sasso ◽  
Michele Marullo ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Retinal Pigment Epithelium ◽  
Multimodal Imaging ◽  
Optical Coherence Tomography Angiography ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Case Series ◽  
Variable Degree ◽  
Optical Coherence ◽  
Imaging Evaluation

Purpose: Combined hamartoma of the retina and retinal pigment epithelium is a rare benign tumor characterized by a variable combination of glial, vascular, and pigmented components. The purpose of our study was to analyze the features of combined hamartoma of the retina and retinal pigment epithelium on optical coherence tomography angiography. Methods: Small case series of two cases of combined hamartoma of the retina and retinal pigment epithelium with macular and optic nerve involvement, evaluated with multimodal imaging including optical coherence tomography, fluorescein angiography, and optical coherence tomography angiography. Results: On optical coherence tomography, combined hamartoma of the retina and retinal pigment epithelium is characterized by disruption of the inner neurosensory retina and a variable degree of involvement of the external retina. Optical coherence tomography angiography showed diffuse alterations of the retinal vessels of the superficial and deeper layers, extended to the peripapillary area. Vessel abnormalities included increased tortuosity and caliber of vessels, vascular traction, and vessel stretching within the lesion. Conclusion: Optical coherence tomography angiography allows in-depth multilayer analysis of tumor vascular network, highlighting the fine abnormalities of retinal vasculature characteristic of combined hamartoma of the retina and retinal pigment epithelium.

Multimodal imaging of chorioretinal folds induced by orbital vascular malformation in two cases

2020 ◽  
pp. 112067212095758
Author(s):  
Ahmet Kaan Gündüz ◽  
Carol L Shields ◽  
Şükran Bekdemir ◽  
Jerry A Shields
Keyword(s):  
Functional Status ◽  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Late Phase ◽  
Vascular Tumor ◽  
Fundus Photography ◽  
Swept Source ◽  
Chorioretinal Folds

Purpose: To investigate the alterations in the retinal pigment epithelium (RPE) in the crest and trough portions of chorioretinal folds (CRFs) induced by an orbital vascular tumor. Methods: Review of multimodal imaging in two eyes of two patients with globe compression and CRFs from an orbital vascular tumor. Results: Fundus photography demonstrated obliquely extending CRFs with alternating hyperpigmented and hypopigmented linear alterations in both eyes. Fundus autofluorescence (AF) imaging showed obliquely oriented hypoAF lines, incompletely alternating with hyperAF lines. In Case 1, the hyperAF lines had interspersed hypoAF segments and Case 2 had peripapillary mottling of AF. Fluorescein angiography (FA) showed alternating hyper and hypofluorescent lines in the late phase in Case 1. Optical coherence tomography (OCT) documented relative thinning of RPE at the folded crests in Case 1 and preservation of RPE in Case 2. Swept-source OCT angiography (SS-OCTA) demonstrated oblique hyporeflective lines in the outer retina and choriocapillaris layers in Case 2. These findings suggest that the crest of a CRF represents thinned or rarified RPE with hypoAF, transmission hyperfluorescence (FA), partially attenuated RPE layer (OCT), and isoreflectivity (SS-OCTA) while the trough represents compressed RPE with irregular hyperAF, transmission hypofluorescence (FA), thickened RPE layer (OCT), and hyporeflectivity (SS-OCTA). Conclusion: The anatomic and functional status of the RPE in CRFs based on multimodal imaging reveals normal to attenuated RPE with hypofunctionality at the fold crest and compacted, thickened RPE at the trough with segmental functional impairment on AF imaging. Anatomic information regarding CRFs is evident on OCT, FA, and SS-OCTA while the functional status is depicted on AF.

scholarly journals Central Serous Chorioretinopathy in a Myopic Patient with Pachychoroid

2017 ◽  
Vol 1 (1) ◽  
pp. oapoc.0000007
Author(s):  
Elon H.C. van Dijk ◽  
Kasper L. de Roon Hertoge ◽  
Camiel J.F. Boon
Keyword(s):  
Central Serous Chorioretinopathy ◽  
High Myopia ◽  
Retinal Pigment Epithelial ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Fundus Photography ◽  
Ophthalmological Examination ◽  
Patient Presentation ◽  
Pachychoroid Pigment Epitheliopathy

Introduction To report a case of central serous chorioretinopathy (CSC) associated with a retinal pigment epithelium detachment in a myopic patient with marked pachychoroid. Patient presentation Case report of a 37-year-old male patient with relatively high myopia (-5.00D in OD/-5.75D in OS), unilateral CSC, and bilateral retinal pigment epithelial detachments, pachychoroid, and choroidal hyperaemia. Standard ophthalmological examination and multimodal imaging, including fundus photography, fundus autofluorescence, spectral-domain and enhanced depth optical coherence tomography, and indocyanine green angiography were performed. Conclusions Findings characteristic for the spectrum of CSC/pachychoroid pigment epitheliopathy can be observed in patients with relatively high myopia. Based on the outcome of complete ophthalmological examination, this clinical picture can be discerned from other diseases, which is important for the optimal therapeutic approach.

scholarly journals Multimodal imaging of torpedo maculopathy in a Chinese woman: a case report

2019 ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao Yao ◽  
Hui Ye ◽  
Yan Yu
Keyword(s):  
Visual Field ◽  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Chinese Woman ◽  
Fluorescence Angiography ◽  
Macular Lesion ◽  
Funduscopic Examination ◽  
Torpedo Maculopathy

Abstract Background: Torpedo maculopathy is a rare, benign, and congenital macular lesion that typically appears in ‘torpedo-shape’ and located at the temporal macula region. The purpose of this article is to describe in detailed regarding the torpedo maculopathy in a Chinese woman using multimodal imaging. Case presentation: A 30-year-old Chinese woman occasionally had an yellowish-white macular lesion in her right eye during a routine examination. She had no symptoms, and the best-corrected visual acuity of both eyes was 6/6. Funduscopic examination revealed a torpedo-shaped and mild hyperpigmentation lesion in the temporal macular area of her right eye. Infrared fundal (IR) photograph showed that the lesion contour was visible, transverse elliptical, a tip pointed towards the central fovea of the macula. Microperimetry visual field appeared normal. The spectral-domain optical coherence tomography (SD-OCT) showed a normal inner, mildly thinned retinal pigment epithelium (RPE), and increased choroidal signal. OCT angiography (OCTA) choroid capillary segment revealed increased density of the choroidal vasculature. With fundus autofluorescence (FAF), the lesion showed slight hypoautofluorescence, and marginal mild hypoautofluorescence. Fundus fluorescence angiography (FFA) of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process. Conclusions: This is the first report to put forward a thorough and detailed description of torpedo maculopathy simultaneously using fundal photograph, IR, microperimetry visual field, OCT, OCTA, FAF, and FFA. Multimodal imaging provides precious and detailed information to further clarify the characteristics and development of this rare disease.

scholarly journals Chronic choriocapillaris ischemia secondary to choroidal congestion in pachychoroid neovasculopathy

2021 ◽  
Author(s):  
Hidetaka Matsumoto ◽  
Junki Hoshino ◽  
Ryo Mukai ◽  
Kosuke Nakamura ◽  
Shoji Kishi ◽  
...  
Keyword(s):  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Case Series ◽  
Retrospective Case ◽  
Rpe Atrophy ◽  
Pachychoroid Neovasculopathy ◽  
Vortex Vein ◽  
Clinical Records ◽  
Choroidal Vessels

Abstract We evaluated choroidal congestion using multimodal imaging in pachychoroid neovasculopathy (PNV). In a retrospective case series of 100 eyes of 99 treatment-naïve PNV patients, their clinical records were reviewed and the corresponding multimodal imaging studies were analyzed. We assessed areas of choriocapillaris filling delay which overlapped with dilated outer choroidal vessels, choroidal neovascularization (CNV), and retinal pigment epithelium (RPE) atrophy. The study subjects were 78 men (78.8%) and 21 women (21.2%). The mean patient age was 67.5 ± 10.5 years. On indocyanine green angiography, all eyes showed choriocapillaris filling delay in the early phase. Dilated outer choroidal vessels were demonstrated in all eyes by en face optical coherence tomography. The areas of choriocapillaris filling delay overlapped extensively with that of dilated outer choroidal vessels. All eyes showed CNV localized within the sites of choriocapillaris filling delay. RPE atrophy was noted in 71 eyes (71.0%), and 68 of these (95.8%) had RPE atrophy within the areas showing choriocapillaris filling delay. These findings indicate chronic choriocapillaris ischemia secondary to vortex vein congestion may lead to CNV development as well as RPE atrophy in eyes with PNV.

scholarly journals Chronic choriocapillaris ischemia in dilated vortex vein region in pachychoroid neovasculopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Hidetaka Matsumoto ◽  
Junki Hoshino ◽  
Ryo Mukai ◽  
Kosuke Nakamura ◽  
Shoji Kishi ◽  
...  
Keyword(s):  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Case Series ◽  
Retrospective Case ◽  
Rpe Atrophy ◽  
Pachychoroid Neovasculopathy ◽  
Vortex Vein ◽  
Clinical Records ◽  
Choroidal Vessels

AbstractWe evaluated choroidal congestion using multimodal imaging in pachychoroid neovasculopathy (PNV). In a retrospective case series of 100 eyes of 99 treatment-naïve PNV patients, their clinical records were reviewed and the corresponding multimodal imaging studies were analyzed. We assessed areas of choriocapillaris filling delay which overlapped with dilated outer choroidal vessels, choroidal neovascularization (CNV), and retinal pigment epithelium (RPE) atrophy. The study subjects were 78 men (78.8%) and 21 women (21.2%). The mean patient age was 67.5 ± 10.5 years. On indocyanine green angiography, all eyes showed choriocapillaris filling delay in the early phase. Dilated outer choroidal vessels were demonstrated in all eyes by en face optical coherence tomography. The areas of choriocapillaris filling delay overlapped extensively with that of dilated outer choroidal vessels. All eyes showed CNV localized within the sites of choriocapillaris filling delay. RPE atrophy was noted in 71 eyes (71.0%), and 68 of these (95.8%) had RPE atrophy within the areas showing choriocapillaris filling delay. These findings indicate that chronic choriocapillaris ischemia secondary to vortex vein congestion may lead to CNV development as well as RPE atrophy in eyes with PNV.

scholarly journals Ophthalmological findings in facioscapulohumeral dystrophy

2019 ◽  
Vol 1 (1) ◽  
Author(s):  
Rianne J M Goselink ◽  
Vivian Schreur ◽  
Caroline R van Kernebeek ◽  
George W Padberg ◽  
Silvère M van der Maarel ◽  
...  
Keyword(s):  
Vision Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Array Size ◽  
Fundus Photography ◽  
Ophthalmological Examination ◽  
Healthy Controls ◽  
Facioscapulohumeral Dystrophy ◽  
Repeat Array ◽  
D4z4 Repeat

Abstract Ophthalmological abnormalities in facioscapulohumeral dystrophy may lead to treatable vision loss, facilitate diagnostics, could help unravelling the pathophysiology and serve as biomarkers. In this study, we provide a detailed description of the ophthalmological findings in a well-defined cohort of patients with facioscapulohumeral dystrophy using state of the art retina imaging techniques. Thirty-three genetically confirmed patients (aged 7–80 years) and 24 unrelated healthy controls (aged 6–68 years) underwent clinical ophthalmological examination, fundus photography, optical coherence tomography/angiography, genotyping and neurological examination. All patients had normal corrected visual acuity and normal intraocular pressure. In 27 of the 33 patients, weakness of the orbicularis oculi was observed. Central retinal pathology, only seen in patients and not in healthy controls, included twisting (tortuosity) of the retinal arteries in 25 of the 33 patients and retinal pigment epithelium defects in 4 of the 33 patients. Asymmetrical foveal hypoplasia was present in three patients, and exudative abnormalities were observed in one patient. There was a correlation between the severity of retinal tortuosity and the D4Z4 repeat array size (R2 = 0.44, P < 0.005). Follow-up examination in a subgroup of six patients did not show any changes after 2 years. To conclude, retinal abnormalities were frequent but almost always subclinical in patients with facioscapulohumeral dystrophy and consisted primarily of arterial tortuosity and foveal abnormalities. Retinal tortuosity was seen in the retinal arterioles and correlated with the D4Z4 repeat array size, thereby providing clinical evidence for an underlying genetic linkage between the retina and facioscapulohumeral dystrophy.

Altered ellipsoid zone reflectivity and deep capillary plexus rarefaction correlate with progression in Best disease

2019 ◽  
Vol 104 (4) ◽  
pp. 461-465 ◽  
Author(s):  
Francesco Romano ◽  
Alessandro Arrigo ◽  
Pier Pasquale Leone ◽  
Andrea Saladino ◽  
Francesco Bandello ◽  
...  
Keyword(s):  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Case Series ◽  
Macular Dystrophy ◽  
Rapid Progression ◽  
Ophthalmological Examination ◽  
Internal Reference ◽  
Ellipsoid Zone ◽  
Capillary Plexus

AimsTo evaluate the effects of neurovascular damage in patients with the typical vitelliform lesion of Best vitelliform macular dystrophy (BVMD) in the attempt to identify different progression patterns.MethodsProspective, observational case series. Patients in the vitelliform stage of BVMD and healthy controls underwent complete ophthalmological examination on a yearly basis, including best-corrected visual acuity (BCVA), biomicroscopy, optical coherence tomography (OCT) and OCT angiography (OCT-A). 4.5×4.5 mm OCT-A slabs were imported into ImageJ software and their vessel density (VD) was calculated. Similarly, the ellipsoid zone (EZ) was manually outlined and the reflectivity was measured above the vitelliform lesion and in the 500 µm external to it. Retinal pigment epithelium–Bruch’s membrane complex was taken as internal reference.Results34 eyes (24 patients) and 34 matched controls were included in the study. Mean follow-up was of 28.4±5.8 months, with 12 eyes showing signs of stage progression at the end follow-up. The EZ overlying the vitelliform lesion and in the peri-lesional area disclosed a significant reduction in reflectivity when compared with the foveal and para-foveal EZ of controls, respectively. VD resulted meaningfully decreased only at the deep capillary plexus. Of notice, more extensive EZ (reflectivity <0.7) and vascular alterations (VD <0.4) at baseline strongly correlated with worse BCVA and were associated with a more rapid progression at follow-up.ConclusionsBoth EZ reflectivity and VD at deep capillary plexus may prove valuable biomarkers to assess BVMD severity and detect progression. In this view, ‘rapid progressors’ might benefit the most from timely genetic therapies in the future.

scholarly journals Multimodal imaging of torpedo maculopathy in a Chinese woman: a case report

2019 ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao Yao ◽  
Hui Ye ◽  
Yan Yu
Keyword(s):  
Visual Field ◽  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Chinese Woman ◽  
Fluorescence Angiography ◽  
Macular Area ◽  
Macular Lesion ◽  
Torpedo Maculopathy

Abstract Background: Torpedo maculopathy is a rare, benign, and congenital macular lesion that typically appears in a ‘torpedo-shape’ and is located at the temporal macula region. This study aimed to describe in detail regarding torpedo maculopathy in a Chinese woman using multimodal imaging. Case presentation: A 30-year-old Chinese woman with occasional yellowish-white macular lesions in her right eye during a routine examination was presented to our hospital. She had no other symptoms, and the best-corrected visual acuity of both eyes was 6/6. Funduscopic examination revealed a torpedo-shaped and mild hypopigmented lesion in the temporal macular area of her right eye. Infrared fundal (IR) images showed visible lesion contour, transverse elliptical, and with a tip pointing towards the central fovea of the macula. Microperimetry visual field appeared normal. The spectral-domain optical coherence tomography (SD-OCT) showed a normal inner retina, with mild thinner outer retina and retinal pigment epithelium in the temporal macular area, and correspondingly increased choroidal reflectivity. Other OCT findings included outer retinal loss/attenuation with significant atrophy of an intact ellipsoid zone. OCT angiography (OCTA) of choroid capillary layer revealed increased density of choroidal vasculature in corresponding to the area of the lesion, while the superficial and deep layers revealed normal vasculature. Fundus autofluorescence (FAF) revealed normal signal with slight hyperautofluorescence at the nasal lesion margin. Fundus fluorescence angiography (FFA) of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process. Conclusions: This is the first report to include a thorough and detailed description of torpedo maculopathy by using fundal photograph, IR, microperimetry visual field, OCT, OCTA, FAF, and FFA. Multimodal imaging provides precious and detailed information to further clarify the characteristics and development of this rare disease.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant

2021 ◽  
pp. 112067212110000
Author(s):  
João Esteves-Leandro ◽  
Sónia Torres-Costa ◽  
Sérgio Estrela-Silva ◽  
Renato Santos-Silva ◽  
Elisete Brandão ◽  
...  
Keyword(s):  
Rare Variant ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Pattern Electroretinogram ◽  
Fundus Photography ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Full Field ◽  
Visual Acuity Loss

Purpose: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in “cone dystrophy with supernormal rod responses” (CDSRR). Methods: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing. Results: All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. Conclusion: A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.

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