Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.

Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.

Retinal sensitivity and fundus autofluorescence in adult-onset foveomacular vitelliform dystrophy.

The present study aimed to compare retinal sensitivity (RS) at each stage and to evaluate the relationship between RS and fundus autofluorescence (FAF) pattern in adult-onset foveomacular vitelliform dystrophy (AOFVD). We retrospectively reviewed 17 eyes of 13 patients with AOFVD. In addition to best-corrected visual acuity (VA), RS within the affected lesion and optical coherence tomography (OCT) measurements were carried out in each participant. All the examined eyes were classified into 4 stages and 3 FAF patterns. RS was superimposed on OCT fundus image and RS within the affected lesion was calculated in each eye. The relationships between visual functions (VA and RS within the affected lesion) and stages and also FAF patterns were analyzed using the linear mixed model. As a result, RS within the affected lesion was significantly associated with FAF pattern, but not with stage. In contrast, VA was correlated with neither stages nor FAF patterns. Our current result suggested that RS within the affected lesion was related to FAF patterns but this was not the case with VA in eyes with AOFVD, demonstrating the usefulness of measuring RS, not only VA, to comprehend the disease status in AOFVD.

Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.

Purpose: To investigate the clinical and imaging features associated with retinal sensitivity in Best vitelliform macular dystrophy (BVMD). Methods: This was a cross-sectional, single-center, observational study. Each patient underwent optical coherence tomography (OCT), near-infrared fundus autofluorescence, and OCT angiography. Macular integrity assessment microperimetry under mesopic conditions was performed to obtain retinal sensitivity thresholds from 68 testing points in the central macula. Structural OCT was used to classify BVMD lesions into four types according to their composition: vitelliform, mixed, subretinal fluid, and atrophy. Multilevel, mixed-effects linear regression was used to determine the factors associated with retinal sensitivity. Results: The study included 57 eyes of 30 patients with BVMD, 48 of which (84%) were in a clinical stage. Mean retinal sensitivity varied according to the composition of the lesion: the vitelliform type registering the highest (22 ± 4.1 dB), followed by mixed (18.73 ± 2.7 dB), subretinal fluid (15.68 ± 4.2 dB), and atrophy types (11.85 ± 4.6 dB). The factors most strongly associated with mean retinal sensitivity in BVMD proved to be the OCT lesion type and outer nuclear layer thickness. Conclusions: Retinal sensitivity in BVMD is influenced by lesion composition and outer nuclear layer thickness. Further studies with long-term follow-up are warranted to examine retinal sensitivity over time and to validate retinal sensitivity changes as biomarkers for BVMD. Translational Relevance: Assessing retinal sensitivity in BVMD provides a new instrument in the clinical characterization of the disease and offers the opportunity to identify imaging biomarkers for use as outcome measures in future clinical trials.

Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD).

Initial stages of Best vitelliform macular dystrophy (BVMD) and adult vitelliform macular dystrophy (AVMD) harbor similar blue autofluorescence (BAF) and optical coherence tomography (OCT) features. Nevertheless, BVMD is characterized by a worse final stage visual acuity (VA) and an earlier onset of critical VA loss. Currently, differential diagnosis requires an invasive and time-consuming process including genetic testing, electrooculography (EOG), full field electroretinogram (ERG), and visual field testing. The aim of our study was to automatically classify OCT and BAF images from stage II BVMD and AVMD eyes using a deep learning algorithm and to identify an image processing method to facilitate human-based clinical diagnosis based on non-invasive tests like BAF and OCT without the use of machine-learning technology. After the application of a customized image processing method, OCT images were characterized by a dark appearance of the vitelliform deposit in the case of BVMD and a lighter inhomogeneous appearance in the case of AVMD. By contrast, a customized method for processing of BAF images revealed that BVMD and AVMD were characterized respectively by the presence or absence of a hypo-autofluorescent region of retina encircling the central hyperautofluorescent foveal lesion. The human-based evaluation of both BAF and OCT images showed significantly higher correspondence to ground truth reference when performed on processed images. The deep learning classifiers based on BAF and OCT images showed around 90% accuracy of classification with both processed and unprocessed images, which was significantly higher than human performance on both processed and unprocessed images. The ability to differentiate between the two entities without recurring to invasive and expensive tests may offer a valuable clinical tool in the management of the two diseases.

Multimodal imaging in subclinical best vitelliform macular dystrophy.

BACKGROUND: To analyse multimodal imaging alterations in the subclinical form of best vitelliform macular dystrophy (BVMD). METHODS: The study was designed as an observational, cross-sectional case series. Eleven eyes of 7 subclinical patients with BVMD and 12 age-matched and sex-matched controls were included. Multimodal imaging included fundus blue-light autofluorescence, near-infrared autofluorescence (NIR-AF), structural optical coherence tomography (OCT) and OCT angiography (OCTA). The quantitative analysis included the calculation of the following parameters: vessel density (VD), vessel tortuosity (VT), vessel dispersion (Vdisp), vessel rarefaction (VR), foveal avascular zone (FAZ) area, reflectivity of the outer retinal bands and choriocapillaris porosity (CCP). RESULTS: Mean best-corrected visual acuity was 0.0±0.0 LogMAR in both groups. The round central hypoautofluorescent alteration on NIR-AF corresponded to a significant reflectivity attenuation of the outer retinal bands on structural OCT (0.55±0.18 vs 0.75±0.08; p<0.001). VD, VT, VR and Vdisp were normal compared with controls (all p>0.05). The FAZ area turned out to be significantly restricted at the level of the deep capillary plexus in subclinical BVMD eyes (p<0.001). Furthermore, quantitative OCTA revealed a significant central increase of CCP, compared with controls (18.25±2.43 vs 4.58±1.36; p<0.001). CONCLUSIONS: The subclinical stage of BVMD is characterised by significant alterations of the outer retinal bands and the choriocapillaris. Quantitative multimodal imaging assessment suggests that subclinical BVMD is affected by the functional impairment of the outer retinal structures, leading to an alteration in melanin and growth factor production.

Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.

Characterization of vascular impairment in Best vitelliform macular dystrophy (BVMD) is essential for the development of treatment modalities and therapy trials. As such, we seek to characterize the choriocapillaris (CC) at each stage of the disease process in 22 patients (44 eyes) with a diagnosis of BVMD confirmed by genetic sequencing. We utilize optical coherence tomography angiography (OCTA) images to characterize the CC and correlate our findings to the status of the retinal pigment epithelium (RPE) as observed on short-wavelength fundus autofluorescence (SW-AF) images. We observed that in the vitelliruptive stage, the CC appeared as bright and granular in the area where the vitelliform lesion was present. In the atrophic stage, varying degrees of CC atrophy were observed within the lesion area, with the regions of CC atrophy appearing as hypoautofluorescent on SW-AF images. Our results suggest that the CC impairment observed in the vitelliruptive stage of BVMD progressively culminates in the CC atrophy observed at the atrophic stage. As such, OCTA imaging can be used to characterize CC impairment in BVMD patients as part of diagnosis and tracking of disease progression. Our findings suggest that the best window of opportunity for therapeutic approaches is before the atrophic stage, as it is during this stage that CC atrophy is observed.

Multimodal imaging in a case of best vitelliform macular dystrophy.

We describe a case of Best Vitelliform Macular Dystrophy using the Mirante device by Nidek, a multi-modal confocal scanning laser ophthalmoscopy (SLO) system equipped with Retro Mode Illumination, a relatively new retinal imaging modality.

Assessment of retinal vessel density in adult-onset foveomacular vitelliform dystrophy by optical coherence tomography angiography.

BACKGROUND: To evaluate retinal thickness, area of foveal avascular zone (FAZ), flow area and flow density of choriocapillaris, vessel density of both superficial capillary plexus (SCP) and deep capillary plexus (DCP) of eyes with adult-onset foveomacular vitelliform dystrophy (AOFVD) using optical coherence tomography angiography (OCT-A) and compare the results with healthy controls. METHODS: 17 eyes of 14 patients diagnosed with AOFVD and 17 eyes of 17 healthy subjects were enrolled in this study. All patients underwent a complete ophthalmological examination and a 6 x 6 mm macular OCT-A scanning. Quantiative results of retinal thickness, retinal vessel density of SCP and DCP, FAZ area, flow area and flow density of choriocapillaris were analyzed. RESULTS: No statistically significant differences were noted in the vessel density of the SCP, except for the parafoveal nasal sector (P = 0.048). Similarly, no statistically significant differences were observed in the vessel density of the DCP, except for the parafoveal (P = 0.037) and the parafoveal temporal (P = 0.048) sectors. The choriocapillaris flow area and the flow density were significantly lower in the patients with AOFVD than in the healthy controls (P = 0.001 for both). The mean FAZ area and the retinal thickness measurements were comparable in both groups. CONCLUSIONS: Patients with AOFVD show vascular abnormalities that can be detected with OCT-A. OCT-A, as a noninvasive imaging modality, could provide a new perspective for understanding the pathophysiology of AOFVD and could also be useful in the follow-up of these patients and in the management of the disease progression.

Study of vessel density in adult-onset foveomacular vitelliform dystrophy with optical coherence tomography angiography.

BACKGROUND: To evaluate retinal and choriocapillaris (CC) vessel density in macular region in patients affected by adult-onset foveomacular vitelliform dystrophy (AOFVD) using optical coherence tomography angiography (OCTA) METHODS: A total forty-four right eyes of 44 AOFVD patients (20 females, 24 males, mean age 69.17 ± 11.57 years) divided in 3 stages (vitelliform, pseudohypopyon and vitelliruptive) and 60 normal right eyes of 60 controls (20 females, 40 males, mean age 66.04 ± 6.40 years) were included in this prospective study. We evaluated the vessel density of superficial capillary plexus (SCP), deep capillary plexus (DCP) and CC in different macular areas (whole image, parafovea and fovea). We also analyzed the subfoveal choroidal thickness (SFCT) with Enhanced Depth Image (EDI)-OCT. RESULTS: The vessel density of SCP and of DCP did not differ between patients and controls in all macular sectors. The vessel density of CC was lower in patients compared to controls but the difference turned out to be statistically significant only in foveal region (p < 0.001). We found that the foveal vessel density of the CC was lower in vitelliform stage and significantly increased in vitelliruptive stage (p = 0.031). At EDI-OCT, the SFCT revealed a statistically significant increase in patients compared to controls (p = 0.002) whereas it was similar in the different stages of this dystrophy (p = 0.276). CONCLUSIONS: In vitelliform stage of AOFVD, OCTA and EDI-OCT can be useful to avoid mistakes of evaluation, due to the masking effect artifact. OCTA provides us a better understanding of the vascular role in the physiopathology of the macular diseases.

SEROUS MACULAR DETACHMENT IN BEST DISEASE: A Masquerade Syndrome.

PURPOSE: To describe the clinical and multimodal imaging findings of a series of cases of serous macular detachment (SMD) caused by Best disease (BD) masquerading as neovascular age-related macular degeneration or central serous chorioretinopathy that were inappropriately treated with intravitreal anti-vascular endothelial growth factor or laser therapy. This study will also present data to support age-related progressive choroidal thickening in BD patients, which may play a role in the development of SMD in this population. METHODS: Clinical examination and multimodal imaging findings, including color fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, and optical coherence tomography-angiography, were reviewed and analyzed. Subfoveal choroidal thickness was also formally measured, and an age-related choroidal thickness analysis was performed and compared with a normal population. RESULTS: Twenty-six eyes of 13 patients (5 women) were included. Median age was 44 years. Nine patients presented with a history of SMD and subretinal fluid recalcitrant to various therapies, including intravitreal anti-vascular endothelial growth factor injections and photodynamic therapy. Best disease was subsequently diagnosed genetically in six patients and by detailed family history in seven. Mean logarithm of the minimum angle of resolution best-corrected visual acuity for all 26 eyes at last follow-up was +0.36 (Snellen equivalent of 20/46). Subfoveal choroidal thickness positively correlated with age for our cohort, increasing linearly at a rate of 25.6 µm per decade (R = 0.64; P < 0.001). Choroidal neovascularization was identified in four eyes on optical coherence tomography angiography, but these eyes did not respond to anti-vascular endothelial growth factor treatment. CONCLUSION: The diagnosis of BD should be considered in patients presenting with SMD and recalcitrant subretinal fluid masquerading as neovascular age-related macular degeneration or chronic central serous chorioretinopathy to avoid unnecessary treatment procedures. The positive correlation of subfoveal choroidal thickness with age in BD patients may be a factor in the pathogenesis and development of SMD in this population. Recognizing the multimodal imaging features of SMD associated with BD, described in detail in this study, will guide practitioners to the accurate diagnosis of BD and reduce the risk of unnecessary intraocular procedures with potential complications.

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.

BEST1 is a Ca2+-activated Cl- channel predominantly expressed in retinal pigment epithelium (RPE), and over 250 genetic mutations in the BEST1 gene have been identified to cause retinal degenerative disorders generally known as bestrophinopathies. As most BEST1 mutations are autosomal dominant, it is of great biomedical interest to determine their disease-causing mechanisms and the therapeutic potential of gene therapy. Here, we characterized six Best vitelliform macular dystrophy (BVMD)-associated BEST1 dominant mutations by documenting the patients' phenotypes, examining the subcellular localization of endogenous BEST1 and surface Ca2+-dependent Cl- currents in patient-derived RPEs, and analyzing the functional influences of these mutations on BEST1 in HEK293 cells. We found that all six mutations are loss-of-function with different levels and types of deficiencies, and further demonstrated the restoration of Ca2+-dependent Cl- currents in patient-derived RPE cells by WT BEST1 gene supplementation. Importantly, BEST1 dominant and recessive mutations are both rescuable at a similar efficacy by gene augmentation via adeno-associated virus (AAV), providing a proof-of-concept for curing the vast majority of bestrophinopathies.

Neovascularized Best Disease in Child: Contribution of Optical Coherence Tomography Angiography.

Choroidal neovascularization (CNV) is a rare but severe complication in Best disease and autosomal recessive bestrophinopathy. However, the visualization of the neovascular membrane is difficult on fluorescein angiography (FA) and indocyanine green angiography (ICGA) because of dye leakage due to the accumulation of material. The authors' study reports a case series of pediatric Best disease where optical coherence tomography angiography (OCTA) contributed to the diagnosis of CNV and prompt treatment. Five eyes of three patients were included (two Best disease and one autosomal recessive bestrophinopathy). The mean age at diagnosis was 6.8 years ± 1.8 years (range: 5 years to 10 years). OCTA showed the typical "sea fan-shaped" neovascular membrane in all five eyes, whereas, in most cases, conventional imaging by FA and ICGA did not show clearly the neovascularization due to masking effect of the vitelliform material. OCTA seems to be a good alternative to diagnosing CNV in Best disease, especially in children, as it is a noninvasive, rapid technique for imaging, and does not require the administration of dyes. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:597-601.].

Multicolor Imaging Characteristics of Best's Vitelliform Macular Dystrophy.

A 40-year-old woman presented with vitellieruptive stage of Best's vitelliform macular dystrophy (BVMD) in the right eye and pseudohypopyon stage in the left eye. She underwent comprehensive ophthalmic examination and fundus imaging using multicolor (MC) imaging technology of Spectralis (Heidelberg Engineering, Heidelberg, Germany) spectral-domain-optical coherence tomography system. Composite MC imaging revealed larger area of retinal pigment epithelium atrophy in vitellierruptive stage of the disease in the right eye compared to color fundus photograph. Retinal elevation in the pseudohypopyon stage was better delineated on composite MC and blue reflectance images in the left eye. Subretinal lipofuscin was best seen in green reflectance and short-wave autofluorescence images. The present case reports the MC imaging features of BVMD.

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.

PURPOSE: To describe outer retinal structure in patients with Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT) and correlate these results with best-corrected visual acuity (BCVA) and patient age. DESIGN: Retrospective cross-sectional study. METHODS: Patients with molecularly confirmed BVMD were compared with normal control subjects (NCs). A complete clinical evaluation was performed, including BCVA, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine the stage of the lesion, the central macular thickness (CMT), the foveal outer nuclear layer (ONL) thickness, and tomographic structural changes. RESULTS: Forty-two patients with BVMD (42 eyes) with a molecular diagnosis and 42 NCs (42 eyes) were included. Clinical stages (Gass clinical classification) were distributed as follows: 4.8% for stage 1, 23.8% for stage 2, 16.6% for stage 3, 45.2% for stage 4, and 9.5% for stage 5. The presence of subretinal fluid and vitelliform material was noted in 76% and 79% of the BVMD eyes examined, respectively, and was not associated with BCVA modification (P = .758 and P = .968, respectively). The median ONL thickness was significantly lower compared with the NCs (P < .001). BCVA was significantly correlated with stage (R = 0.710; P < .01), age (R = 0.448; P < .01), CMT (R = -0.411; P < .01), and ONL thickness (R = -0.620; P < .01). The disruption of the external limiting membrane and the ellipsoid zone was associated with a decreased BCVA (P < .001 for both). Among the 32 eyes with subretinal detachment, photoreceptor outer segment length was significantly correlated with BCVA (R = -0.467; P < .01) and ONL thickness (R = 0.444; P = < .01). CONCLUSION: This study shows the correlation between BCVA, age, and spectral-domain OCT features in patients with BVMD. ONL thickness as well as photoreceptor outer segment length are relevant functional correlates and outcome measures to follow photoreceptor impairments and disease progression.

The electrooculogram.

The electrooculogram (EOG) measures the cornea-positive standing potential relative to the back of the eye. By attaching skin electrodes outside the eye near the lateral and medial canthus, the potential can be measured by having the patient move the eyes horizontally a set distance. The voltage becomes smaller in the dark, reaching its lowest potential after 8-12min, the so-called dark trough. When the lights are turned on, the potential rises, reaching a peak by about 10min. When the size of the light peak is compared to the dark trough, the normal ratio should be near 2:1. A light peak:dark trough ratio of less than 1.7 is considered abnormal. The origin of electrooculographic potentials is the pigment epithelium of the retina interacting with the midretina. The light rise of the potential requires both a normal pigment epithelium and normal midretinal function. The most common use of the electrooculogram is to confirm Best disease. Best disease is identified by the appearance of an egg-yellow fundus and can be confirmed by recording both an electroretinogram (ERG) and electrooculogram (EOG). The ERG will be normal and the EOG will be abnormal. The EOG is also used for tracking eye movement.

Contextual influences in the peripheral retina of patients with macular degeneration.

Macular degeneration (MD) is the leading cause of low vision in the elderly population worldwide. In case of complete bilateral loss of central vision, MD patients start to show a preferred retinal region for fixation (PRL). Previous literature has reported functional changes that are connected with the emergence of the PRL. In this paper, we question whether the PRL undergoes a use-dependent cortical reorganization that alters the range of spatial lateral interactions between low-level filters. We asked whether there is a modulation of the excitatory/inhibitory lateral interactions or whether contextual influences are well accounted for by the same law that describes the integration response in normal viewers. In a group of 13 MD patients and 7 age-matched controls, we probed contextual influences by measuring the contrast threshold for a vertical target Gabor, flanked by two collinear high-contrast Gabors. Contextual influences of the collinear flankers were indicated by the changes in contrast threshold obtained at different target-to-flanker distances (λs) relative to the baseline orthogonal condition. Results showed that MDs had higher thresholds in the baseline condition and functional impairment in the identification tasks. Moreover, at the shortest λ, we found facilitatory rather than inhibitory contextual influence. No difference was found between the PRL and a symmetrical retinal position (non-PRL). By pulling together data from MD and controls we showed that in the periphery this inversion occurs when the target threshold approach the flankers' contrast (about 1:3 ratio) and that for patients it does occur in both the PRL and a symmetrical retinal position (non-PRL). We conclude that contrary to previous interpretations, this modulation doesn't seem to reflect use-dependent cortical reorganization but rather, it might result from a reduction of contrast gain for the target that promotes target-flankers grouping.

Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.

BACKGROUND: Epidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of the current study was to investigate the clinical characteristics and the underlying genetics of these two forms of macular dystrophy. METHODS: Complete ophthalmic examination was performed including optical coherence tomography, electroretinography, electrooculography and autofluoresence imaging in all patients. Genomic DNA was extracted from peripheral blood collected from patients and family members. RESULTS: Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family. CONCLUSIONS: Several mutations of the BEST1 gene have been reported which are responsible for numerous ocular pathologies. To the best of our knowledge, it is the first time we report mutations in this gene in Tunisian families presenting different forms of macular dystrophy. Our report also expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.

To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive bestrophinopathy (ARB) and two showed a phenotype with a single vitelliform lesion, patients were subjected to standard ophthalmic examinations. In addition, BEST1 exons and their flanking regions were amplified and sequenced by Sanger sequencing. Co-segregation and detailed bio-informatic analyses were performed. Clinical examination results were consistent with ARB diagnosis for all index patients showing multifocal vitelliform lesions and a markedly reduced light peak in the electrooculogram, including the two patients with a single vitelliform lesion. In all cases, most likely disease-causing BEST1 mutations co-segregated with the phenotype. The ARB cases showed homozygous missense variants (M1, c.209A>G, p.(Asp70Gly) in exon 3, M2, c.1403C>T; p.(Pro468Leu) in exon 10 and M3, c.830C>T, p.(Thr277Met) in exon 7), while the two patients with a single vitelliform lesion were compound heterozygous for M1 and M2. To our knowledge, this is the first study describing mutations in Lebanese patients with bestrophinopathy, where novel biallelic BEST1 mutations associated with two phenotypes were identified. Homozygous mutations were associated with multifocal lesions, subretinal fluid, and intraretinal cysts, whereas compound heterozygous ones were responsible for a single macular vitelliform lesion.

MULTIMODAL IMAGING OF ACUTE EXUDATIVE POLYMORPHOUS VITELLIFORM MACULOPATHY WITH OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY AND ADAPTIVE OPTICS SCANNING LASER OPHTHALMOSCOPY.

PURPOSE: To report a case of acute exudative polymorphous vitelliform maculopathy including the findings of optical coherence tomography angiography and adaptive optics scanning laser ophthalmoscopy. METHODS: Findings on clinical examination, color fundus photography, spectral-domain optical coherence tomography, infrared reflectance, autofluorescence, optical coherence tomography angiography, and adaptive optics scanning laser ophthalmoscopy. RESULTS: A 54-year-old white man with no significant medical history and history of smoking presented with bilateral multiple serous and vitelliform detachments consistent with acute exudative polymorphous vitelliform maculopathy. Extensive infectious, inflammatory, and malignancy workup was negative. Spectral-domain optical coherence tomography showed thickened, hyperreflective ellipsoid zone, subretinal fluid, and focal as well as diffuse subretinal hyperreflective material corresponding to the vitelliform lesions. Optical coherence tomography angiography showed normal retinal and choroidal vasculature, whereas adaptive optics scanning laser ophthalmoscopy showed circular focal "target" lesions at the level of the photoreceptors in the area of foveal detachment. CONCLUSION: Multimodal imaging is valuable in evaluating patients with acute exudative polymorphous vitelliform maculopathy.