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Myopic macular pits: a case series with multimodal imaging

Fogel Levin, Meira; Freund, K Bailey; Gunnemann, Frederic; Greaves, Giovanni; Sadda, SriniVas; Sarraf, David
OBJECTIVE:To characterize the multimodal retinal findings of myopic macular pits, a feature of myopic degeneration. METHODS:A case series of patients with myopic macular pits were studied with multimodal imaging including color fundus photography, fundus autofluorescence (FAF), near infrared reflectance (NIR), spectral domain optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), fluorescein angiography (FA) and indocyanine green angiography (ICG). RESULTS:Nine eyes of 6 patients with myopic macular pit were examined. Four patients presented with multiple pits and 3 with bilateral involvement. All pits were localized in a region of severe macular chorioretinal atrophy associated with myopic posterior staphyloma. In 3 eyes, the entrance of the posterior ciliary artery through the sclera was noted at the base of the pit. Schisis overlying the pit or adjacent to the pit was identified in 3 patients. CONCLUSION/CONCLUSIONS:Myopic macular pits are an additional rare sign of myopic degeneration, developing in regions of posterior staphyloma complicated by severe chorioretinal atrophy and thin sclera.
PMID: 34626545
ISSN: 1715-3360
CID: 5067892

Urinary Metabolomics of Central Serous Chorioretinopathy

Meyerle, Catherine B; Lyu, Pin; Qian, Jiang; Freund, K Bailey; Hafiz, Gulnar; Handa, James T; Semba, Richard D
PURPOSE/OBJECTIVE:To analyze the urinary metabolomic profile of central serous chorioretinopathy (CSC) cases. METHODS:In a cross-sectional study, 80 participants with CSC were compared with 80 age- and sex-matched controls. Urinary metabolites were measured using Metabolon's Discovery HD4TM platform. RESULTS:Of 1031 metabolites total that were measured in urine samples, 53 were up-regulated and 27 down-regulated in CSC participants compared with controls. After exclusion of potentially confounding xenobiotics and bile compounds that could represent digestive processes, 14 metabolites were significantly higher and 12 metabolites were significantly lower in cases compared with controls. One upregulated metabolite (tetrahydrocortisol sulfate) is involved in the corticosteroid sub-pathway. The down-regulated metabolites are unrelated to the identified corticosteroid sub-pathway. CONCLUSION/CONCLUSIONS:The upregulation of urinary tetrahydrocortisol sulfate in CSC cases provides a precise molecular basis to further study the role of corticosteroids in producing choroidal venous congestion.
PMID: 36512801
ISSN: 1539-2864
CID: 5382062

Multimodal Imaging and Microperimetry of Retinal Pigment Epithelium Tear-Associated Resurfacing Tissue

Ramtohul, Prithvi; Cabral, Diogo; Freund, K Bailey
PMID: 36695804
ISSN: 1539-2864
CID: 5426572

Reply [Letter]

Cabral, Diogo; Ramtohul, Prithvi; Fradinho, Ana; Freund, K Bailey
PMID: 36424280
ISSN: 2468-6530
CID: 5384402

Vitelliform maculopathy: Diverse etiologies originating from one common pathway

Iovino, Claudio; Ramtohul, Prithvi; Au, Adrian; Romero-Morales, Veronica; Sadda, SriniVas; Freund, K Bailey; Sarraf, David
Vitelliform lesions (VLs) are associated with a wide array of macular disorders but are the result of one common pathway: retinal pigment epithelium (RPE) impairment and phagocytic dysfunction. VLs are defined by the accumulation of yellowish subretinal material. In the era of multimodal advanced retinal imaging, VLs can be further characterized by subretinal hyperreflectivity with optical coherence tomography and hyperautofluorescence with fundus autofluorescence. VLs can be the result of genetic or acquired retinal diseases. In younger patients, VLs usually occur in the setting of Best disease. Additional genetic causes of VL include pattern dystrophy or adult-onset vitelliform macular dystrophy. In older patients, acquired VLs can be associated with a broad spectrum of etiologies, including tractional, paraneoplastic, toxic, and degenerative disorders. The main cause of visual morbidity in eyes with VLs is the onset of macular atrophy and macular neovascularization. Histopathological studies have provided new insights into the location, nature, and lifecycle of the vitelliform material comprised of melanosomes, lipofuscin, melanolipofuscin, and outer segment debris located between the RPE and photoreceptor layer. Impaired phagocytosis by the RPE cells is the unifying pathway leading to VL development. We discuss and summarize the nature, pathogenesis, multimodal imaging characteristics, etiologies, and natural course of vitelliform maculopathies.
PMID: 36720370
ISSN: 1879-3304
CID: 5434792

Vogt-Koyanagi-Harada-like Uveitis Followed by Melanoma-Associated Retinopathy with Focal Chorioretinal Atrophy and Choroidal Neovascularization in a Patient with Metastatic Cutaneous Melanoma

Ng, Caleb C; Alsberge, Joseph B; Qian, Ying; Freund, K Bailey; Cunningham, Emmett T
PURPOSE/OBJECTIVE:To report a case of Vogt-Koyanagi-Harada (VKH)-like uveitis followed by melanoma-associated retinopathy (MAR) with focal chorioretinal atrophy and subsequent choroidal neovascularization (CNV) in a patient with metastatic cutaneous melanoma. OBSERVATION/METHODS:A 68-year-old man with a history cutaneous melanoma presented with VKH-like uveitis. Work up revealed a pelvic mass, which was excised and found to be metastatic melanoma. Two years later, the patient developed MAR with focal chorioretinal atrophy and adjacent CNV. CONCLUSION/CONCLUSIONS:and Importance: Patients with metastatic cutaneous melanoma can develop distinct and sequential paraneoplastic ocular complications. Onset of a VKH-like uveitis may be a good prognostic factor for survival in patients with metastatic cutaneous melanoma.
PMID: 33394953
ISSN: 1937-1578
CID: 4738552

Deep Capillary Plexus Features in Acute Macular Neuroretinopathy: Novel Insights Based on the Anatomy of Henle Fiber Layer

Cabral, Diogo; Ramtohul, Prithvi; Zatreanu, Luca; Galhoz, Daniel; Leitao, Miguel; Nogueira, Vanda; Sarraf, David; Freund, K Bailey
PURPOSE:The purpose of this study was to identify a precise location of deep capillary plexus (DCP) injury in acute macular neuroretinopathy (AMN) lesions using multimodal imaging. METHODS:En face structural optical coherence tomography (OCT) images were manually segmented to delineate outer retinal AMN lesions involving the ellipsoid zone and interdigitation zone. AMN lesion centroid was calculated, and image distortion was applied to correct for Henle fiber layer (HFL) length and orientation. The resulting image was registered with the corresponding en face OCT angiography (OCTA) image segmented at the DCP and structural OCT volume before grading for vascular and structural features, respectively. RESULTS:Thirty-nine AMN lesions from 16 eyes (11 female patients, mean age 34 ± 4 years) were analyzed. After correcting for HFL anatomy, in 62% of AMN lesions, the centroid co-localized with a capillary vortex (pattern 1); flow defects were detected in 33% of lesions (pattern 2); and in 5% of lesions no specific pattern could be identified (pattern 3). The detection of a specific pattern increased after correcting the projection of AMN lesion for HFL anatomy (28% vs. 5%, P = 0.04). Outer nuclear layer thickness was lower in the centroid area in 10 (29%) AMN lesions from 6 patients, all corresponding to lesions fitting pattern 2 (r = 0.78, P < 0.001). CONCLUSIONS:AMN lesions might be a result of DCP impairment at the level of the capillary vortex or draining venule. In eyes with AMN, the location of outer retinal changes associated with DCP ischemia appears to be influenced by the length and orientation of HFL.
PMID: 36469026
ISSN: 1552-5783
CID: 5382832

Soft drusen accumulation within a full-thickness macular hole: new insights into the mechanisms of lipid cycling pathways in age-related macular degeneration

Ramtohul, Prithvi; Cabral, Diogo; Klancnik, James M; Curcio, Christine A; Freund, K Bailey
PMID: 35296802
ISSN: 1476-5454
CID: 5190922

Volume Rendering of Deep Retinal Age-Related Microvascular Anomalies

Cabral, Diogo; Ramtohul, Prithvi; Fradinho, Ana; Freund, K Bailey
PURPOSE/OBJECTIVE:To characterize and distinguish non-neovascular deep retinal age-related microvascular anomalies (DRAMA) from type 3 macular neovascularization (MNV) using volume rendering of optical coherence tomography (OCT) and OCT angiography (OCTA). DESIGN/METHODS:Retrospective, consecutive case series. SUBJECTS/METHODS:Consecutive patients with age-related macular degeneration (AMD) exhibiting de novo non-neovascular abnormalities within the deep vascular plexus (DCP) on high-resolution (High-Res) spectral domain and swept-source OCT/OCTA. Patients with retinal vascular alterations attributable to other disease entities were excluded. METHODS:Complete ophthalmologic examination and multimodal imaging including confocal fundus photography (CFP), spectral domain OCT (SD-OCT), High-Res SD-OCT and OCTA, and volume-averaged swept-source OCTA (SS-OCTA). Volume rendering of High-Res OCTA and averaged SS-OCTA were used to analyze capillary abnormalities and inflow/outflow connectivity pathways. MAIN OUTCOME MEASURES/METHODS:The primary outcomes were the characteristics of capillary abnormalities (number, size, shape, reflectivity, and location) and inflow/outflow connectivity pathways. Secondary outcomes were nearby changes in CFP and structural OCT (hyperreflective foci, outer retinal atrophy, and retinal pigment epithelium (RPE) atrophy). RESULTS:From 8 eyes of 8 patients, 2 DRAMA subtypes were identified: small diameter perifoveal capillary dilations with hyperreflective walls within the inner nuclear layer (type 1, n=4) and vascular outpouchings, typically multiple, extending posteriorly into Henle's fiber layer with reflectivity similar to adjacent normal retinal capillaries (type 2, n=10). Four eyes had both DRAMA subtypes. Three-dimensional visualization of OCTA data demonstrated DRAMA corresponding to dilations of DCP capillaries without direct inflow or outflow connections to the superficial plexus. Fundus photographs showed circular red dots in 3 eyes, all corresponding to type 1 DRAMA. DRAMA co-localized with hyperreflective foci in all cases. No lesions were found anterior to areas of retinal pigment epithelium or outer retina atrophy. Asymptomatic intraretinal exudation varied through a follow-up of up to 6 years, with no lesions progressing to type 3 MNV. CONCLUSIONS:In eyes with non-neovascular AMD, DRAMA includes two types of capillary dilations occurring without remodeling of the surrounding vascular network. DRAMA can resemble microvascular changes due to other causes and can masquerade as type 3 MNV. Mild intraretinal exudation can vary during follow up without progression to type 3 MNV.
PMID: 35772694
ISSN: 2468-6530
CID: 5281332

Subretinal drusenoid deposits are strongly associated with coexistent high-risk vascular diseases

Ledesma-Gil, Gerardo; Otero-Marquez, Oscar; Alauddin, Sharmina; Tong, Yuehong; Tai, Katy; Lloyd, Harriet; Koci, Micaela; Scolaro, Maria; Pillai, Cinthi; Ye, Catherine; Govindaiah, Arun; Bhuiyan, Alauddin; Dhamoon, Mandip S.; Deobhakta, Avnish; Lema, Gareth; Narula, Jagat; Rosen, Richard B.; Yannuzzi, Lawrence A.; Freund, K. Bailey; Smith, Roland Theodore
Background/aims Demonstrate that subretinal drusenoid deposits (SDDs) in age-related macular degeneration (AMD) are linked to coexistent high-risk vascular diseases (HRVDs). Methods Cross-sectional study. Two hundred AMD subjects (aged 51-100 years; 121 women, 79 men) were recruited. Spectral domain optical coherence tomography, autofluorescence and near-infrared reflectance imaging, and lipid profiles were obtained. Subjects were assigned by health history questionnaires into those with or without HRVDs, defined as: cardiac valve defect (eg, aortic stenosis), myocardial defect (eg, myocardial infarction) and stroke/transient ischaemic attack. Masked readers assigned subjects into two groups: SDD (with or without drusen) and drusen (only). Univariate testing was performed by χ 2 test. We built multivariate regression models to test relationships of coexistent HRVD to SDD status, lipid levels and other covariates. Results The prevalence of HRVD was 41.2% (40/97) and 6.8% (7/103) in the SDD and non-SDD groups, respectively (correlation of SDD with HRVD, p=9×10 -9, OR 9.62, 95% CI 4.04 to 22.91). Multivariate regressions: only SDDs and high-density lipoprotein (HDL) in the first two HDL quartiles remained significant for HRVD (p=9.8×10 -5, 0.021, respectively). Multivariate regression model: SDDs and an HDL in Q1 or Q2 identified the presence of HRVD with the accuracy of 78.5%, 95% CI 72.2% to 84.0%. Conclusions High-risk cardiovascular and neurovascular diseases were accurately identified in an AMD cohort from SDDs and HDL levels. The SDDs may be related to inadequate ocular perfusion resulting from the systemic vasculopathies. Further research with this paradigm is warranted and might reduce mortality and morbidity from vascular disease.
ISSN: 2397-3269
CID: 5393012