Retinal Pigment Epithelium Alterations Research Articles

Central serous chorioretinopathy complicated by neovascularization following panretinal photocoagulation for diabetic retinopathy

AbstractPurpose: To report a case of chronic central serous chorioretinopathy (CSCR) complicated by neovascularization following panretinal photocoagulation (PRP) for a proliferative diabetic retinopathy (DR).Methods: A 51‐year‐old man, with a medical history of diabetes mellitus and chronic CSCR presented to our department for alteration of central vision of the left eye (LE) 6 months after bilateral PRP for proliferative DR. Complete ophthalmic examination with best corrected visual acuity (BCVA) measurement, fundus photography, fundus autofluorescence (FAF), swept source optical coherence tomography (SS‐OCT), swept source optical coherence tomography angiography (SS‐OCTA) and indocyanine green angiography (ICG‐A) were performed.Results: BCVA was 20/100 in the right eye (RE) and 20/400 in the LE. Anterior segment examination was unremarkable except for a cataract in the RE. Fundoscopic examination of the LE showed multiple areas of retinal pigment epithelium (RPE) alteration and a temporal pigment epithelium detachment (PED). FAF showed multiple hypoautofluorescent lesions associated with gravitational tracks. SS‐OCT revealed a serous retinal detachment, a flat irregular PED with a double layer sign overlying a thickened choroid and dilated choroidal vessels. Mid‐phase ICGA revealed 2 discrete areas of hyperfluorescence. SS‐OCTA confirmed the presence of 2 well‐defined choroidal neovascular membranes. The patient was diagnosed with Pachychoroid Neovasculopathy (PNV). After 2 intravitreal bevacizumab injections, SS‐OCT showed complete resolution of the subretinal fluid whereas SS‐OCTA visualized a mature “dead‐tree” shaped membrane.Conclusions: This is an unusual case of chronic CSCR progressing to PNV following PRP for RD. The disruption of an active RPE pump mechanism or release of endogenous stress hormones after PRP have been suggested by some authors as possible causes of this progression. Further studies are needed to elucidate the exact pathogenesis.

Biomarkers predicting central serous chorioretinopathy episode persistence.

The purpose of this study was to identify biomarkers at presentation that are associated with a persistent central serous chorioretinopathy (CSC) episode. The prospective study included 35 patients with an acute CSC episode. Potential clinical and imaging biomarkers were evaluated at baseline and 3 months from the episode onset. As biomarkers age, sex, steroid use, episode recurrence, central retinal thickness (CRT), macular volume (MV), choroidal thickness (CT), pigment epithelial detachment (PED) height, and width, number of retinal hyperreflective foci (HF), leakage pattern, and area of retinal pigment epithelial (RPE) alterations were investigated. At 3 months from the CSC episode onset, spontaneous resolution occurred in 19 patients, while 16 patients had a persistent CSC episode. The group of patients with a persistent episode was statistically significantly associated with female sex (p = 0.032), older age (p = 0.015), wider PED (p = 0.005), and higher number of HF (p = 0.02). Moreover, this group of patients had a significant association with thinner choroid and diffuse RPE alterations as a pair (p = 0.008). Older and female CSC patients with wider PED, increased number of HF, thinner choroid, and diffuse RPE alterations at presentation are inclined to episode persistence and could benefit from earlier treatment.

Pre-operative optical coherence tomography macula: An indispensable investigation to predict post-operative outcomes

Objectives: The aim of the study was to identify clinically undiagnosed macular pathologies and determine their distribution in pre-operative cataract patients. Materials and Methods: The present study is a hospital-based cross-sectional study of patients who attended the ophthalmology OPD to undergo pre-operative evaluation for cataract surgery in a tertiary care government hospital in South Gujarat, India, during a period from July 2019 to September 2020. The inclusion criteria for the study were patients above the age of 40 years with immature cataracts that allowed for optical coherence tomography (OCT) scan acquisition. Patients with prior history of macular disease or those who have undergone treatment for retinal pathologies were excluded from the study. Two hundred cataract patients who met the defined inclusion criteria and gave an informed written consent were enrolled. Three hundred and ten eyes with a normal fundoscopic appearance underwent spectral domain OCT macula examination before cataract surgery. The OCT macula scans were scrutinised for any undiagnosed subtle macular pathologies and were documented. Cataract surgery with explained visual prognosis was undertaken in specific cases correlating with their macular findings and surgery was deferred in a few. Results: Among 200 study participants, 310 eyes had unremarkable fundoscopic appearance on ophthalmoscopy. While undergoing OCT examination, 65 (20.96%) eyes out of 310 showed abnormalities. The most common presentation was epiretinal membrane in 22 eyes (7.09%) followed by pigment epithelial detachment in 14 (4.5%) eyes. Other findings were drusen (nine eyes), lamellar macular hole (five), vitreomacular traction (five), IS-OS junction abnormalities (four), retinal pigment epithelium alterations (two), juxtafoveal telangiectasia (one), foveal thinning (one), pseudovitelliform lesion (one) and spongy oedema (one). Conclusion: Routine fundoscopic examination for pre-operative cataract evaluation of the 200 study participants failed to identify subtle macular pathologies which were further diagnosed on SD-OCT Macula. Sixty-five eyes (20.96%) out of the 310 eyes were found to have macular pathologies. The various findings that were obtained provided us an insight into the appropriate choice of intraocular lenses, required surgical consents and the therapeutic strategy for each individual patient. Thus, we can conclude that OCT macula is an indispensable investigation before cataract extraction to avoid unsolicited post-operative surprises and medicolegal conundrums.

Histologic Cell Shape Descriptors for the Retinal Pigment Epithelium in Age-Related Macular Degeneration: A Comparison to Unaffected Eyes.

PurposePhenotype alterations of the retinal pigment epithelium (RPE) are a main characteristic of age-related macular degeneration (AMD). Individual RPE cell shape descriptors may help to delineate healthy from AMD-affected cells in early disease stages.MethodsTwenty-two human RPE flatmounts (7 eyes with AMD [early, 3; geographic atrophy, 1; neovascular, 3); 15 unaffected eyes [8 aged ≤51 years; 7 aged >80 years)] were imaged at the fovea, perifovea, and near periphery (predefined sample locations) using a laser-scanning confocal fluorescence microscope. RPE cell boundaries were manually marked with computer assistance. For each cell, 11 shape descriptors were calculated and correlated with donor age, cell autofluorescence (AF) intensity, and retinal location. Statistical analysis was performed using an ensemble classifier based on logistic regression.ResultsIn AMD, RPE was altered at all locations (most pronounced at the fovea), with area, solidity, and form factor being the most discriminatory descriptors. In the unaffected macula, aging had no significant effect on cell shape factors; however, with increasing distance to the fovea, area, solidity, and convexity increased while form factor decreased. Reduced AF in AMD was significantly associated with decreased roundness and solidity.ConclusionsAMD results in an altered RPE with enlarged and deformed cells that could precede clinically visible lesions and thus serve as early biomarkers for AMD onset. Our data may also help guide the interpretation of RPE morphology in in vivo studies utilizing high-resolution single-cell imaging.Translational RelevanceOur histologic RPE cell shape data have the ability to identify robust biomarkers for the early detection of AMD-affected cells, which also could serve as a basis for automated segmentation of RPE sheets.

Identification of Age-associated Proteins and Functional Alterations in Human Retinal Pigment Epithelium

Retinal pigment epithelium (RPE) has essential functions, such as nourishing and supporting the neural retina, and is of vital importance in the pathogenesis of age-related retinal degeneration. However, the exact molecular changes of RPE during aging remain poorly understood. Here, we isolated human primary RPE (hRPE) cells from 18 eye donors distributed over a wide age range (10–67 years old). A quantitative proteomic analysis was performed to analyze changes in their intracellular and secreted proteins. Age-group related subtypes and age-associated proteins were revealed and potential age-associated mechanisms were validated in ARPE-19 and hRPE cells. The results of proteomic data analysis and verifications suggest that RNF123- and RNF149-related protein ubiquitination plays an important role in protecting hRPE cells from oxidative damage during aging. In older hRPE cells, apoptotic signaling-related pathways were up-regulated, and endoplasmic reticulum organization was down-regulated both in the intracellular and secreted proteomes. Our work paints a detailed molecular picture of hRPE cells during the aging process and provides new insights into the molecular characteristics of RPE during aging and under other related clinical retinal conditions.

Morphological parameters predicting subthreshold micropulse laser effectiveness in central serous chorioretinopathy.

The purpose of this prospective study was to predict the effectiveness of subthreshold micropulse laser (SML) based on morphological parameters in patients with central serous chorioretinopathy (CSC). Thirty-one patients were examined at presentation, 3months, and 6months after the disease onset. In patients with persistent subretinal fluid (SRF) at 3months, SML was performed. The following morphological parameters were observed just before treatment: central retinal thickness (CRT), maximal SRF, choroidal thickness (CT), pigment epithelial detachment (PED) height and width, number of hyperreflective foci (HF) at fovea and leakage site, secondary choroidal neovascularization (CNV), and severity of retinal pigment epithelium (RPE) alterations using multimodal imaging. Good response was associated with lower SRF (p = 0.038), narrower PED (p = 0.078), and decreasing number of HF at fovea (difHFf) (p = 0.016) just before the treatment. From a bivariate and multivariate point of view, the two groups differed significantly in the pair (SRF, PED width) (p = 0.048) and in the triple (SRF, PED width, difHFf) (p = 0.026). Lower SRF, narrower PED, and decreasing HF could be associated with good response to SML in CSC patients.

ACQUIRED VITELLIFORM LESIONS: A Novel Finding in Eyes with Peripapillary Pachychoroid Syndrome.

To describe a novel finding of acquired vitelliform lesions in eyes with peripapillary pachychoroid syndrome. A retrospective, multicenter, observational case series including seven patients with peripapillary pachychoroid syndrome and concomitant acquired vitelliform lesions. Medical records and multimodal imaging findings were comprehensively reviewed. Six of seven patients were men, with a mean age of 72.6 years. Mean baseline best-corrected visual acuity was 0.11 ± 0.07 (Snellen equivalent 20/25), and all patients presented with baseline best-corrected visual acuity of 20/30 or better. Mean follow-up time was 24.4 months (range 1-54 months). At last follow-up, best-corrected visual acuity was stable in 13/14 eyes, and deteriorated in one eye because of subfoveal atrophy.Fundus examination revealed peripapillary retinal pigment epithelium alterations and pigment migration in all eyes. Fundus autofluorescence showed mottled hyperautofluorescence and hypoautofluorescence in the peripapillary region, and hypoautofluorescent lesions corresponding to the pigmentary changes. Optical coherence tomography showed nasal choroidal thickening and pachyvessels with overlying retinal pigment epithelium irregularity. All eyes presented with peripapillary intraretinal fluid. Subretinal fluid was present in five eyes of three patients. Acquired vitelliform lesions were present in 11 eyes. The novel association between peripapillary pachychoroid syndrome and acquired vitelliform lesions is characterized by the classic findings of both entities, and visual prognosis is accordingly good.

Fundus Autofluorescence Imaging in Patients with Choroidal Melanoma.

Simple SummaryThe ocular fundus contains molecules that emit fluorescence when excited with light of an appropriate wavelength. Fundus autofluorescence imaging is based on the in vivo detection of intrinsic fluorescence and results in topographic autofluorescence mapping of the ocular fundus. In contrast to fluorescence angiography, where the fluorescing agents need to be administered intravenously, autofluorescence imaging is a non-invasive technique. Even though choroidal melanomas do not contain significant autofluorescent molecules themselves, they may lead to secondary alterations in neighbouring tissues with an impact on the autofluorescence signal recording. Fundus autofluorescence imaging in the context of choroidal melanoma is helpful for differential diagnosis and for monitoring variations over time in affected patients before and after treatment.Choroidal melanocytic lesions require reliable and precise clinical examination and diagnosis to differentiate benign choroidal nevi from choroidal melanoma, as the latter may become life-threatening through metastatic disease. To come to an accurate diagnosis, as well as for monitoring, and to assess the efficacy of therapy, various imaging modalities may be used, one of which is non-invasive fundus autofluorescence (FAF) imaging using novel high-resolution digital imaging technology. FAF imaging is based on the visualization of intrinsic fluorophores in the ocular fundus. Lipofuscin and melanolipofuscin within the postmitotic retinal pigment epithelium (RPE) cells represent the major fluorophores that contribute to the FAF signal. In addition, the presence or loss of absorbing molecular constituents may have an impact on the FAF signal. A choroidal melanoma can cause secondary retinal and RPE alterations that affect the FAF signal (e.g., occurrence of orange pigment). Therefore, FAF imaging supports multimodal imaging and gives additional information over and above conventional imaging modalities regarding retinal metabolism and RPE health status. This article summarises the features of FAF imaging and the role of FAF imaging in the context of choroidal melanoma, both before and following therapeutic intervention.

Proteomics identifies new potential therapeutic targets of diabetic retinopathy

ABSTRACT Retinal pigment epithelium (RPE) is an important component of the outer blood-retinal barrier and plays a critical role in maintaining retinal homeostasis. Alterations in RPE can be detected during the early stages of diabetic retinopathy (DR). However, the molecular mechanisms underlying these early changes remain unclear. We investigated the molecular changes induced in the RPE by high glucose concentrations by constructing a high glucose-induced ARPE-19 cell injury model simulating the DR environment in vitro. Proteomic analysis was conducted to measure differences in protein expression between cells treated with normal (5 mM) and high (25 mM) glucose concentrations, and bioinformatics techniques were used to analyze the mechanism of action. The results of the proteomic analyses were validated using western blotting. High glucose levels inhibited the proliferation of ARPE-19 cells. We identified 88 upregulated proteins and 114 downregulated proteins. Six of these proteins were selected for further validation. Changes in the proteome mainly affected the lysosome and cell cycle pathways. Proteomic differences between ARPE-19 cells treated with normal and high glucose concentrations indicate that damage to the RPE in DR may be caused by specific mechanisms. Our study verified protein changes in ARPE-19 cells in a high-glucose environment and may provide new strategies for understanding the molecular mechanisms underlying DR.

Multimodal retinal imaging of m.3243A>G associated retinopathy

Retro-mode illumination imaging can provide good visualization of chorio-retinal atrophy and of the retinal pigment epithelial alterations occurring in m.3243A > G associated retinopathy.

External Limiting Membrane, Photoreceptor Ellipsoid Zone Disruption, and Retinal Pigment Epithelium Alterations in Diabetic Retinopathy

Objective Diabetic retinopathy (DR), a microvascular complication of diabetes, is a leading cause of preventable blindness. Spectral domain optical coherence tomography (SD-OCT) provides cross-sectional and topographical imaging of the retina. SD-OCT resolves outer retinal layers into three hyperreflective bands—external limiting membrane (ELM), ellipsoid zone (EZ), and retinal pigment epithelium (RPE). In this article, we have studied the role of these outer retinal layers in structural and molecular changes taking place in DR. Materials and Methods Articles with clinical features, pathogenesis, diagnosis, and treatment of DR were thoroughly studied. Articles were searched on PubMed, MEDLINE, and Cochrane Library from 2000 to 2020. Studies focusing on the role of ELM, EZ, and RPE in pathogenesis of DR based on SD-OCT were included. Results The long-standing hyperglycemia leads to protein glycosylation resulting in formation of advanced glycation end products (AGEs). AGEs have an impact through their effect on retinal microvasculature, vascular endothelial growth factor (VEGF), intercellular adhesion molecule-1, nitrosative and oxidative stress, and vitamin D and calcium metabolism. All these factors have been linked with disruption of outer retinal layers. AGEs lead to vascular endothelial dysfunction and release of proangiogenic factors by increasing the expression of VEGF in retinal pericytes and RPE cells. This leads to leakage and fluid accumulation resulting in diabetic macular edema (DME). In DME, there is sequential disruption of ELM and EZ and decrease in visual acuity (VA). The RPE alterations have been reported to be associated with the severity of DR and decrease in VA. Anti-VEGF therapy, most common treatment of DME, leads to restoration of barrier effect of ELM, it was found to be restored first followed by EZ restoration. Newer anti-AGEs agents and their receptor blockers are being developed which have a positive effect on maintaining the health of RPE. Conclusion A complex molecular association exists between the structural changes in ELM, EZ, and RPE in DR. SD-OCT is an indispensable tool to study these changes as integrity of these outer layers of retina is essential for maintaining visual function of retina in DR.

En face optical coherence tomography transillumination for evaluation of retinal pigment epithelium alteration in central serous chorioretinopathy: correlation with multimodal imaging.

To study optical coherence tomography (OCT) en face imaging approach to evaluate retinal pigment epithelium (RPE) alteration in central serous chorioretinopathy (CSC). Forty eyes with CSC were imaged with structural en face OCT, fluorescein angiography (FA), and fundus autofluorescence (FAF). Structural en face OCT projections were generated using a 200-µm slab with the inner limit at the outer choroid to register choroidal hypertransmission signal in transillumination manner. Two masked graders independently defined the area of RPE alteration on resultant images. Agreement between graders and correlation between imaging modalities was assessed by kappa coefficients (k) and intraclass correlation coefficients (ICC), respectively. The measurements derived from three methods were highly correlated with ICC of 0.99 (95% CI 0.99 to 1.0) for OCT and FA, 0.97 (95% CI 0.93 to 0.99) for OCT and FAF, and 0.98 (95% CI 0.95 to 0.99) for FA and FAF. For the measurement of the area of RPE alteration, kappa value for inter-grader agreement was 0.94 for OCT, 0.89 for FA, and 0.92 for FAF. En face OCT proved a reliable tool for the noninvasive evaluation of RPE status in CSC.

Appearance of Tumor Vessels in Patients With Choroidal Osteoma Using Swept-Source Optical Coherence Tomographic Angiography.

ObjectiveTo report the morphologic characteristics of tumor-related vasculatures and their association with secondary choroidal neovascularization (CNV), subretinal fluid (SRF), choroidal thickness, retinal pigment epithelium (RPE) alterations, subretinal hemorrhage, and tumor decalcification in eyes with choroidal osteoma (CO), using swept-source optical coherence tomographic angiography (SS-OCTA).DesignCross-sectional observational study.ParticipantsWe included 26 patients recruited from Beijing Tongren Hospital with a diagnosis of CO, based on the presence of yellow-orange mass deep to the RPE under indirect ophthalmoscopy and occupying the choroid with well-defined margins and bone density on ultrasonography or computed tomography and focal hyperfluorescent spots with no homogeneous pattern on fluorescein angiography/indocyanine green angiography (FA/ICGA). Data were collected from April 1, 2020, to April 1, 2021, and analyzed from April 30 through May 30, 2021.MethodsApplying SS-OCTA systems operating at 1,050-nm wavelengths, eyes with CO were imaged.Main Outcome and MeasuresTumor-related vasculature in eyes with CO was characterized using multimodal imaging that included fundus photography, FA/ICGA, SS-OCT, and SS-OCTA, and the images were anatomically aligned. CO thickness was manually measured as the distance between the upper boundary of the tumor and the underlying sclerochoroidal interface on the SS-OCT images. Subfoveal choroidal thickness was manually measured as the distance between the Bruch membrane and the sclerochoroidal interface on the SS-OCT images.ResultsOf the 26 Asian patients, 16 (62%) were women and 10 (38%) were men. The mean age was 26.8 years (median, 23; range, 8–45 years), and the mean best corrected visual acuity (BCVA) was 20/40. Thirty-three eyes underwent imaging and were diagnosed with CO. Indocyanine green angiography identified inhomogeneous hyperfluorescence due to tumor-related vasculature, and all corresponded to the structures that appeared as sea-fan vascular networks (SFVNs) combined with clusters of tangled vessels on SS-OCTA images. SFVNs were detected on SS-OCTA imaging in all eyes (100%), terminal tangled vascular structures in 32 of 33 eyes (97%), but not identified on ICGA. Of the 33 tangled vascular structures, 32 (97%) were located at the edge of or inside the tumor, and only 1 (3%) was associated with type 2 neovascularization. In addition, SS-OCT revealed SRF in 33 eyes (100%), 33 (100%) were located at the edge of CO, and only 1 was underlying macular. SRF with retinal edema was seen in 30 of 32 eyes (94%).ConclusionsIn eyes with CO undergoing SS-OCTA imaging, tumor-related vasculature appears as SFVNs combined with tangled vascular structures or few type 2 neovascularization. The identification of actual tumor vasculature in patients with CO as SFVNs with inner or terminal vascular tangles rather than previously described CNV may help facilitate understanding of their pathogenesis, tumor control, and response to treatment.

Interocular asymmetry in distribution of leaks in central serous chorioretinopathy.

To study interocular asymmetry in distribution of leaks in central serous chorioretinopathy (CSC). Patients with unilateral CSC were included in this retrospective multicenter study. All patients received multimodal imaging. The prevalence of leaks within 1 disk diameter (DD) peripapillary area and the mean shortest distance between a leak and the optic disk edge was analyzed for the right and left eyes separately based on FA images. Clinical and morphological characteristics were collected and compared between eyes with a peripapillary leak and eyes with a leak elsewhere. In total, 152 eyes (77 right eyes and 75 left eyes) of 152 patients (128 males and 24 females) with a mean age of 45.2 ± 9.8years were included. The mean distance from the leak to the edge of the optic disk was statistically significantly lower (p = 0.0003), and the prevalence of the leaks within the 1 DD-peripapillary area was higher in the left eye than in the right eye (32.1% versus 10.7%, respectively, p = 0.0017). The eyes with a peripapillary leak had a longer duration of the disease (p < 0.05), a wider area of retinal pigment epithelium alteration (p < 0.001), and a higher prevalence of outer retinal atrophy (p < 0.001) compared to the eyes with a leak elsewhere. The left eye showed closer location of the leak to the optic disk edge and higher prevalence of leaks within the peripapillary area. The cases with peripapillary leak commonly demonstrated characteristics of chronic CSC despite relative preservation of visual acuity.

Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report

BackgroundTo report the first Italian case of hypotrichosis with juvenile macular dystrophy complicated by macular neovascularization diagnosed through multimodal imaging.Case presentationAn 11-year-old boy was referred to our Institution for bilateral maculopathy of unknown origin. Multimodal imaging helps the diagnosis of Juvenile Macular Dystrophy with Hypotrichosis (HJMD). Fundus examination showed several alterations of the retinal pigment epithelium and circular pigmented area of chorioretinal atrophy. Structural spectral domain optical coherence tomography (OCT) showed some backscattering phenomenon with several alterations of retinal pigment epithelium and photoreceptor layer in both eyes. Moreover, OCT showed hyperreflective lesion beneath the neuroepithelium in left eye. OCT angiography (OCT-A) revealed a pathologic neovascular network in choriocapillaris plexus, probably the result of a fibrovascular membrane. Multifocal electroretinograms (MfERGs) showed functional alterations in 12.22° of the central retina. In order to confirm the suspicion of HJMD, the child and both parents underwent genetic testing. Both parents resulted to be heterozygous healthy carriers of a single variation.ConclusionMultimodal imaging, in particular OCT-A, is a useful aid, along to clinical findings and genetics, for the diagnosis of inherited retinal dystrophies.

Clinical features of patients with retinocytoma

Objective: To analyze the clinical features and fundus performance of patients with retinocytoma. Methods: Retrospective case series study. Ten patients (12 eyes) diagnosed with retinocytoma were enrolled in Department of Ophthalmology of Eye & ENT Hospital of Fudan University from January 2006 to December 2019. Clinical data were reviewed, including gender, age, initial symptoms, tumor size and location, fundus manifestations and regression patterns. Results: There were 7 males and 3 females aged from 5 to 39 years, with a median age of 14 years. Eight patients had unilateral retinocytoma, while 2 patients had bilateral retinocytoma. The most common complaints were strabismus (4 patients) and blurred vision (3 patients). The average maximum base diameter of the tumor was 5.70 mm (2.69 to 8.69 mm), and the average thickness was 2.28 mm (0.61 to 3.76 mm). Tumors in 12 eyes were all of a single focus, 5 in the posterior pole, 5 in the midperiphery and 2 in the periphery. Ophthalmoscopic features of retinocytoma included a translucent retinal mass in 10 eyes, a calcification mass in 11 eyes, with well-defined retinal pigment epithelial alteration in 12 eyes and a zone of chorioretinal atrophy in 6 eyes. The regression patterns were type 1 in 2 eyes, type 2 in 1 eye and type 3 in 9 eyes. The gene test showed RB1 mutation in 1 patient. During the average follow-up of 28.7 months, all of the tumors were stable without malignant transformation. Conclusions: Retinocytoma is a rare benign retinal tumor with characteristic fundus manifestations. Patients with retinocytoma should be monitored closely. (Chin J Ophthalmol, 2021, 57: 526-530).

Increased serum cortisol is associated with alterations in cross-sectional and topographic OCT parameters in diabetic retinopathy: a preliminary study.

Cortisol, a steroid hormone, plays an essential role in metabolic processes of diabetes mellitus. This study for the first time evaluated the association of serum cortisol with spectral domain optical coherence tomography (SD-OCT)-based cross-sectional and topographic parameters with severity of diabetic retinopathy (DR). A tertiary care center-based preliminary study was undertaken. Fourteen consecutive cases of DR and fifteen healthy controls were included. Cases were graded according to ETDRS classification: non-proliferative DR (NPDR, n = 8) and proliferative DR (PDR, n = 6). All study subjects underwent complete ophthalmological evaluation. Serum cortisol was analyzed using chemiluminescence microparticle assay method. Central subfield thickness (CST), cube average thickness (CAT), cube volume (CV), retinal nerve fiber layer (RNFL) thickness, disorganization of inner retinal layers (DRIL), grade of retinal photoreceptor ellipsoid zone (EZ) disruption and grade of retinal pigment epithelium (RPE) alterations were evaluated using SD-OCT. Statistical analysis was done using ANOVA and Pearson's correlation analysis. Mean serum cortisol levels (µg/dL) were NPDR = 11.59 ± 0.42, PDR = 14.50 ± 0.26 and controls = 8.22 ± 0.77. With increasing severity of DR, mean CST, CAT, CV showed positive correlation, whereas mean RNFL thickness showed negative correlation with serum cortisol levels (p < 0.01). DRIL, EZ disruption and RPE alterations showed positive correlation with serum cortisol levels (p < 0.001). Serum cortisol levels are significantly associated with severity of DR and correlate positively with CST, CAT, CV, DRIL, EZ disruption and RPE alterations and negatively with RNFL thickness.

Optical Coherence Tomography Angiography Compared with Multimodal Imaging for Diagnosing Neovascular Central Serous Chorioretinopathy

To assess the diagnostic accuracy of optical coherence tomography angiography (OCTA) compared with multimodal imaging for choroidal neovascularization (CNV) in central serous chorioretinopathy (CSC) eyes and to determine the features that predicted CNV. Prospective cross-sectional study. Consecutive CSC patients were recruited from retina clinic. The reference standard for CNV was determined by interpretation of multimodal imaging with OCTA, structural OCT line scan, fluorescein angiography (FA), indocyanine green angiography (ICGA), ultra-widefield fundus photography and fundus autofluorescence (FAF). Two independent masked graders examined OCTA without FA and ICGA to diagnose CNV. Univariate and multivariate analyses were performed to evaluate factors associated with CNV. CNV was detected in 69 eyes in 64 out of 277 CSC patients according to reference standard. The two masked graders who examined OCTA had sensitivity of 81.2% (95% Confidence Interval [CI], 71.9%-90.4%) and 78.3% (95% CI, 68.5%-88.0%), specificity of 97.3% (95% CI, 95.9%-98.8%) and 96.2% (95% CI, 94.5%-98.0%), positive predictive values of 82.4% (95% CI, 73.3%-91.4%) and 76.1% (95% CI, 66.1%-86.0%), and negative predictive values of 97.1% (95% CI, 95.6%-98.7%) and 96.7% (95% CI, 95.0%-98.3%). Their mean area under the receiver operating characteristic curve (AUC) was 0.88 with good agreement (Kappa coefficient 0.80 [95% CI, 0.72-0.89]). Flat irregular pigment epithelial detachment on structural OCT, neovascular network on OCTA and ill-defined late leakage on FA significantly correlated with CNV in CSC from multiple regression (P < 0.001, P < 0.001 and P = 0.005, respectively). There is discordance between OCTA and multimodal imaging in diagnosing CNV in CSC. This study demonstrated the caveats in OCTA interpretation, such as small extrafoveal lesions and retinal pigment epithelial alterations. Comprehensive interpretation of OCTA with dye angiography and structural OCT is recommended.

The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients.

The mitochondrial DNA (mtDNA) A3243G point mutation encompasses a heterogenous group of disorders including mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), and, rarely, chronic progressive external ophthalmoplegia (CPEO). Regardless of the clinical phenotype, a specific retinopathy has been associated with the presence of this mitochondrial DNA mutation. We present six female patients exhibiting retinopathy of the A3243G point mutation at various stages. Six female patients (37 - 70 years old) with the A3243G point mutation (four MELAS, one MIDD, and oneCPEO) exhibited a maculopathy. Visual acuity ranged from 1/60 to 10/10. Visual field abnormalities varied from minimal decreased sensitivity to absolute central scotomas. They all exhibited, at various degrees, a characteristic pattern of perimacular and peripapillary retinal pigment epithelium (RPE) alterations, with mottled dys-autofluorescence and RPE atrophy and deposits on OCT. The level of visual impairment depended on the foveal involvement and the extension of RPE atrophy. The severity of the maculopathy was not related to age. In the only long-term follow-up (15 years), evolution was slowly progressive. A single mtDNA point mutation at locus 3243 can result in a variety of clinical presentations (MELAS, MIDD, or CPEO). Ocular involvement may manifest as a perimacular/peripapillary RPE atrophy/deposit, which can variably impact central visual function (from asymptomatic to legal blindness). The discovery of such a maculopathy should prompt the ophthalmologist to complete the personal and family history, namely, asking for the presence of diabetes mellitus and/or deafness.

CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up

AimTo investigate the natural history in a Belgian cohort of CRB1-associated retinal dystrophies.MethodsAn in-depth retrospective study focusing on visual function and retinal structure.ResultsForty patients from 35 families were included (ages:...