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Shanmugam MP, Simakurthy S, Dubey D, Konana VK, Sagar P, Ramanjulu R, Suryakanth S. Role of optical coherence tomography angiography in retinal tumors: A narrative review. Indian J Ophthalmol 2024; 72:1082-1090. [PMID: 39078951 PMCID: PMC11451770 DOI: 10.4103/ijo.ijo_29_24] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2024] [Revised: 03/19/2024] [Accepted: 04/15/2024] [Indexed: 10/06/2024] Open
Abstract
Intraocular tumors constitute a small subset of cases in ophthalmologic practice. Proper diagnosis of intraocular tumors is crucial because some pose threat to vision and life, while others may indicate underlying systemic disorders. Intraocular tumors comprise benign and malignant lesions affecting the retina, choroid, optic disc, iris, and ciliary body. Retinal tumors can be classified as vascular, neural, glial, and retinal pigment epithelial tumors. Optical coherence tomography angiography (OCTA) is a noninvasive imaging modality employed in diagnosis and management of retinal and choroidal vascular diseases, and has enhanced our knowledge in better understanding of the vascular physiology and pathology. Multiple case reports and small series evaluating the role of OCTA in retinal tumors are published in literature. OCTA helps in better understanding of the vascularity of intraocular tumors. In addition to this, OCTA has its role in clinical practice. It helps in identification of small retinal capillary hemangioblastoma (RCH), assessment of treatment response, and identification of tumor recurrence in RCH. It aids in identification of retinal astrocytic hamartoma missed on clinical examination and differentiating retinal astrocytic hamartoma and presumed solitary circumscribed retinal astrocytic proliferation. It helps in assessment of risk of tumor recurrence in retinoblastoma. It helps in differentiating tumors of retinal pigment epithelium (RPE) origin from pigmented tumors of the choroid. It also helps in detection of choroidal neovascular membrane in combined hamartoma of the retina and RPE.
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Affiliation(s)
- Mahesh P Shanmugam
- Department of Vitreo-retina and Ocular Oncology, Sankara Eye Hospital, Bengaluru, Karnataka, India
| | - Sriram Simakurthy
- Department of Vitreo-retina, Sankara Eye Hospital, Hyderabad, Telangana, India
| | - Devashish Dubey
- Department of Vitreo-retina, Vasan Eye Care, Rajajinagar, Bengaluru, Karnataka, India
| | - Vinaya Kumar Konana
- Department of Vitreo-retina, Vittala International Institute of Ophthalmology, Bengaluru, Karnataka, India
| | - Pradeep Sagar
- Department of Vitreo-retina, Sankara Eye Hospital, Shimoga, Karnataka, India
| | - Rajesh Ramanjulu
- Department of Vitreo-retina and Ocular Oncology, Sankara Eye Hospital, Bengaluru, Karnataka, India
| | - Shwetha Suryakanth
- Department of Vitreo-retina and Ocular Oncology, Sankara Eye Hospital, Bengaluru, Karnataka, India
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Wen Y, Chen Z, McAlinden C, Zhou X, Huang J. Recent advances in corneal neovascularization imaging. Exp Eye Res 2024; 244:109930. [PMID: 38750782 DOI: 10.1016/j.exer.2024.109930] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/08/2023] [Revised: 04/25/2024] [Accepted: 05/12/2024] [Indexed: 05/19/2024]
Abstract
Corneal neovascularization (CoNV) is a vision-threatening ocular disease commonly secondary to infectious, inflammatory, and traumatic etiologies. Slit lamp photography, in vivo confocal microscopy, angiography, and optical coherence tomography angiography (OCTA) are the primary diagnostic tools utilized in clinical practice to evaluate the vasculature of the ocular surface. However, there is currently a dearth of comprehensive literature that reviews the advancements in imaging technology for CoNV administration. Initially designed for retinal vascular imaging, OCTA has now been expanded to the anterior segment and has shown promising potential for imaging the conjunctiva, cornea, and iris. This expansion allows for the quantitative monitoring of the structural and functional changes associated with CoNV. In this review, we emphasize the impact of algorithm optimization in anterior segment-optical coherence tomography angiography (AS-OCTA) on the diagnostic efficacy of CoNV. Through the analysis of existing literature, animal model assessments are further reported to investigate its pathological mechanism and exhibit remarkable therapeutic interventions. In conclusion, AS-OCTA holds broad prospects and extensive potential for clinical diagnostics and research applications in CoNV.
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Affiliation(s)
- Yinuo Wen
- Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University; Key laboratory of Myopia and Related Eye Diseases, NHC; Key laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China; Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China
| | - Zhongxing Chen
- Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University; Key laboratory of Myopia and Related Eye Diseases, NHC; Key laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China; Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China
| | - Colm McAlinden
- Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University; Key laboratory of Myopia and Related Eye Diseases, NHC; Key laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China; Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China; Corneo Plastic Unit & Eye Bank, Queen Victoria Hospital, East Grinstead, UK
| | - Xingtao Zhou
- Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University; Key laboratory of Myopia and Related Eye Diseases, NHC; Key laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China; Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China
| | - Jinhai Huang
- Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University; Key laboratory of Myopia and Related Eye Diseases, NHC; Key laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China; Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China.
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Laich Y, Farassat N, Grewing V, Boehringer D, Bucher F, Maloca PM, Reinhard T, Lang SJ, Agostini H, Reich M. Optical Coherence Tomography Angiography-Navigated Laser Photocoagulation of Retinal Hemangioblastomas in Patients With von Hippel-Lindau Disease. Transl Vis Sci Technol 2024; 13:8. [PMID: 38980260 PMCID: PMC11235141 DOI: 10.1167/tvst.13.7.8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/18/2024] [Accepted: 05/27/2024] [Indexed: 07/10/2024] Open
Abstract
Purpose To describe optical coherence tomography angiography (OCTA)-guided navigated laser photocoagulation (LP) using the Navilas Laser System for treating retinal hemangioblastomas (RHs) associated with von Hippel-Lindau disease (VHLD). Methods Patients with VHLD were screened using ophthalmoscopy and widefield OCTA. Detected RHs were classified with regard to tumor morphology (endophytic, sessile, exophytic, recurrent) and size. Then, 6 × 6- or 3 × 3-mm2 en face OCTA scans of the RHs were uploaded to the Navilas system, generating a merged image combining the scan and Navilas fundus photography. LP was planned by placing laser spots in the OCTA scan and executed with the Navilas system. Treatment efficacy was assessed by conducting OCTA scans immediately after LP and at follow-up visits. Results Fifteen RHs were detected in 10 patients (median, one RH; range, one to four). Twelve RHs were treatment naive (exophytic [3], sessile [3], and endophytic [6]), and there were three recurrent RHs in pretreated areas. Total applied energy per tumor correlated with tumor size (P < 0.001). After a mean first follow-up of 3.6 ± 1.5 months (range, 0.9-5.3), nine RHs exhibited complete regression (60%), five partial regression (33.3%), and one no regression (6.7%). No correlation between tumor morphology and treatment success was observed (P = 0.32). However, a correlation between treatment success and tumor size trended toward significance (P = 0.08), with a 100% success rate observed for small RHs. Conclusions OCTA-guided LP via the Navilas Laser System is a promising technique, especially beneficial for targeting small RHs. Combining OCTA and ophthalmoscopy improves tumor detection, underscoring the utility of this approach. Translational Relevance OCTA-guided LP enables highly precise and safe treatment of early-stage RHs, minimizing possible complications caused by LP or the tumor itself.
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Affiliation(s)
- Yannik Laich
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Navid Farassat
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Viviane Grewing
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Daniel Boehringer
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Felicitas Bucher
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Peter M. Maloca
- Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
- Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom
| | - Thomas Reinhard
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Stefan J. Lang
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
- Department of Ophthalmology, University Hospital Brandenburg, Brandenburg Medical School, Brandenburg an der Havel, Germany
| | - Hansjuergen Agostini
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Michael Reich
- Eye Center, Medical Center – Faculty of Medicine, University of Freiburg, Freiburg, Germany
- Augenärzte am Städel, Medical Practice for Ophthalmology, Frankfurt, Germany
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Darwich R, Jarrar F, Syed M, Sharpe GP, Chauhan BC. Analysis of deep optic nerve head structures with spectral domain and swept-source optical coherence tomography. Br J Ophthalmol 2024; 108:807-811. [PMID: 37507129 DOI: 10.1136/bjo-2023-323222] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2023] [Accepted: 07/09/2023] [Indexed: 07/30/2023]
Abstract
PURPOSE Histological evidence indicates that the earliest structural changes to the optic nerve head (ONH) in glaucoma occur in the lamina cribrosa (LC) and its interface with the sclera. However, clinical imaging of these structures remains challenging. We compared the visibility of deep ONH structures with newer iterations of spectral-domain (SD) and swept-source (SS) optical coherence tomography (OCT). METHODS Twelve patients with open-angle glaucoma were imaged with SD-OCT with 24 radial B-scans centred on Bruch's membrane opening (BMO) and SS-OCT with a horizontal and vertical raster scan pattern containing five lines each, centred on the ONH. Single best-matched horizontal and vertical scans from the two modalities were selected and exported. Three independent observers masked to modality determined if BMO, posterior choroid surface, anterior scleral canal opening and anterior and posterior LC insertions into the sclera were detectable in the matched B-scan images. We determined the interobserver agreement and concordance in detecting each structure with the two OCT imaging modalities. RESULTS There was a high interobserver agreement with both SS-OCT and SD-OCT (inter-item correlations: 0.81-0.93 and 0.77-0.82, respectively). There was a consistent tendency for higher overall detection rates with SS-OCT, however, the differences failed to reach statistical significance. With respect to individual structures, only the posterior LC insertion in the nasal quadrant was statistically different, with a detection rate of 13 and 6 (pooled out of a total of 36 across the three observers) with SS-OCT and SD-OCT, respectively (p=0.04). CONCLUSION Overall, both SS-OCT and SD-OCT showed statistically equivalent visualisation of ONH structures, however, SS-OCT tended to have higher visualisation rates.
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Affiliation(s)
- Rami Darwich
- Department of Ophthalmology and Visual Sciences, Dalhousie University and Nova Scotia Health Authority, Halifax, Nova Scotia, Canada
| | - Faisal Jarrar
- Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
| | - Mustafa Syed
- Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
| | - Glen P Sharpe
- Department of Ophthalmology and Visual Sciences, Dalhousie University and Nova Scotia Health Authority, Halifax, Nova Scotia, Canada
| | - Balwantray C Chauhan
- Department of Ophthalmology and Visual Sciences, Dalhousie University and Nova Scotia Health Authority, Halifax, Nova Scotia, Canada
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Lang SJ, Dreesbach M, Laich Y, Glatz A, Boehringer D, Grewing V, Fritz M, Bucher F, Lagrèze WA, Maloca PM, Reinhard T, Lange C, Agostini H, Reich M. ZEISS PLEX Elite 9000 Widefield Optical Coherence Tomography Angiography as Screening Method for Early Detection of Retinal Hemangioblastomas in von Hippel-Lindau Disease. Transl Vis Sci Technol 2024; 13:8. [PMID: 38345551 PMCID: PMC10866155 DOI: 10.1167/tvst.13.2.8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2023] [Accepted: 01/03/2024] [Indexed: 02/15/2024] Open
Abstract
Purpose To evaluate early detection of retinal hemangioblastomas (RHs) in von Hippel-Lindau disease (VHLD) with widefield optical coherence tomography angiography (wOCTA) compared to the standard of care in ophthalmologic VHLD screening in a routine clinical setting. Methods We conducted prospective comparisons of three screening methods: wOCTA, standard ophthalmoscopy, and fluorescein angiography (FA), which was performed only in uncertain cases. The numbers of detected RHs were compared among the three screening methods. The underlying causes for the lack of detection were investigated. Results In 91 eyes (48 patients), 67 RHs were observed (mean, 0.74 ± 1.59 RH per eye). FA was performed in eight eyes. Ophthalmoscopy overlooked 25 of the 35 RHs detected by wOCTA (71.4%) due to the background color of the choroid (n = 5), small tumor size (n = 13), masking by a bright fundus reflex (n = 2), and masking by surrounding retinal scars (n = 5). However, wOCTA missed 29 RHs due to peripheral location (43.3%). The overall detection rates were up to 37% on the basis of ophthalmoscopy alone, up to 52% for wOCTA, and 89% for FA. Within the retinal area covered by wOCTA, the detection rates were up to 46.7% for ophthalmoscopy alone, up to 92.1% for wOCTA, and 73.3% for FA. Conclusions The overall low detection rate of RHs using wOCTA is almost exclusively caused by its inability to visualize the entire peripheral retina. Therefore, in unclear cases, FA is necessary after ophthalmoscopy. Translational Relevance Within the imageable retinal area, wOCTA shows a high detection rate of RHs and therefore may be suitable to improve screening for RHs in VHLD.
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Affiliation(s)
- Stefan J. Lang
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- Department of Ophthalmology, University Hospital Brandenburg, Brandenburg Medical School Theodor Fontane (MHB), Brandenburg an der Havel, Germany
| | - Michelle Dreesbach
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Yannik Laich
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Andreas Glatz
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Daniel Boehringer
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Viviane Grewing
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Marianne Fritz
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Felicitas Bucher
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Wolf A. Lagrèze
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Peter M. Maloca
- Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
- Moorfields Eye Hospital NHS Foundation Trust, London, UK
| | - Thomas Reinhard
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Clemens Lange
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Hansjuergen Agostini
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
| | - Michael Reich
- Eye Center, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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Tang X, Ji HM, Li WW, Ding ZX, Ye SL. Imaging features of retinal hemangioblastoma: A case report. World J Clin Cases 2023; 11:692-699. [PMID: 36793647 PMCID: PMC9923853 DOI: 10.12998/wjcc.v11.i3.692] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/24/2022] [Revised: 12/22/2022] [Accepted: 01/05/2023] [Indexed: 01/23/2023] Open
Abstract
BACKGROUND Hemangioblastoma typically occurs in the cerebellum, spinal cord, and central nervous system. However, in rare cases, it could occur in the retina or optic nerve. The prevalence of retinal hemangioblastoma is 1 in 73080, and it occurs either alone or as the manifestation of von Hippel Lindau (VHL) disease. Here, we reported a rare case with the imaging features of retinal hemangioblastoma without VHL syndrome, along with the relevant literature review.
CASE SUMMARY A 53-year-old man had progressive swelling, pain and blurred vision in the left eye without obvious inducement for 15 d. Ultrasonography revealed a possible optic nerve head melanoma. Computed tomography (CT) showed punctate calcification on the posterior wall of the left eye ring and small patchy soft tissue density in the posterior part of the eyeball. Magnetic resonance imaging showed slightly hyperintense signal on T1-weighted images and slightly hypointense-to-isointense signal on T2-weighted images at the medial and posterior edges of the left eyeball, a significant enhancement was observed in the contrast-enhanced scans. Positron emission tomography/CT fusion images showed that the glucose metabolism of the lesion was normal. Pathology was consistent with hemangioblastoma.
CONCLUSION Early identification of retinal hemangioblastoma based on imaging features is of great value for its personalized treatment.
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Affiliation(s)
- Xin Tang
- Department of Radiology, Hangzhou Wuyunshan Hospital, Hangzhou Health Promotion Research Institute, Hangzhou 310008, Zhejiang Province, China
| | - Hai-Ming Ji
- Department of Radiology, Liangzhu Hospital, Hangzhou 311112, Zhejiang Province, China
| | - Wen-Wen Li
- Department of Radiology, Jingmen No.1 People’s Hospital, Jingmen 448000, Hubei Province, China
| | - Zhong-Xiang Ding
- Department of Radiology, Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, Affiliated Hangzhou First People’s Hospital, Zhejiang University School of Medicine, Hangzhou 310006, Zhejiang Province, China
| | - Sheng-Li Ye
- Department of Radiology, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou 310022, Zhejiang Province, China
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Guo J, Du L, Zhou P, Guo X, Dai F, Jin X. Combined therapy guided by multimodal imaging of fifteen retinal capillary hemangioblastomas in a monocular Von Hippel- Lindau syndrome case report. BMC Ophthalmol 2022; 22:205. [PMID: 35524216 PMCID: PMC9074324 DOI: 10.1186/s12886-022-02409-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/22/2021] [Accepted: 04/18/2022] [Indexed: 11/26/2022] Open
Abstract
Background To report the multimodal imaging and treatment of fifteen retinal capillary hemangioblastomas (RCHs) associated with Von Hippel-Lindau syndrome in a monocular patient during a long-term following-up, which supply high-resolution exquisite SS-OCTA images (VG200; SVision Imaging, Ltd., Luoyang, China) and management experience about multiple RCHs. Case presentation A 34-year-old monocular male patient complained decreased visual acuity (20/100) without pain and redness in the left eye five years ago. Von Hippel-Lindau syndrome were diagnosed with genetic testing. He, his son and daughter all carried a heterozygosity missense variant c.499C > T (p. Arg167Trp) in the Hg19 gene, a VHL gene located in Chr3:10,191,506. Fifteen RCHs were identified by the application of multimodal imaging, which including fundus photo, fundus autofluorescence (FAF), B-scan ultrasonography (US), fluorescein fundus angiography (FFA), indocyanine green angiography (ICGA) and swept-source optical coherence tomography angiography (SS-OCTA). Transscleral cryotherapy and laser photocoagulation were performed to destroy the largest RCH with the size of 4 PD in diameter. Laser photocoagulation was conducted to seal the middle or tiny RCHs (< 1.5 PD) and their nourishing vessels. The retinal edema and exudative macular detachment were successfully relieved by intraocular injection of bevacizumab for 5 times. The RCHs in the left eye responded well to these treatments and best corrected visual acuity was 20/25 for three years. Three-month recall visits were recommended for him. Conclusion For multiple retinal capillary hemangioblastomas in monocular patients, precise combined therapy guided by multimodal imaging has a profound impact on the management of new and recurrent RCHs.
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Affiliation(s)
- Ju Guo
- Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China
| | - Liping Du
- Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China
| | - Pengyi Zhou
- Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China
| | - Xiaohong Guo
- People's Hospital of Zhengzhou University & Henan Eye Institute, Zhengzhou, 450000, China
| | - Fangfang Dai
- People's Hospital of Zhengzhou University & Henan Eye Institute, Zhengzhou, 450000, China
| | - Xuemin Jin
- Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
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Reich M, Jaegle S, Neumann‐Haefelin E, Klingler J, Evers C, Daniel M, Bucher F, Ludwig F, Nuessle S, Kopp J, Boehringer D, Reinhard T, Lagrèze WA, Lange C, Agostini H, Lang SJ. Genotype-phenotype correlation in von Hippel-Lindau disease. Acta Ophthalmol 2021; 99:e1492-e1500. [PMID: 33720516 DOI: 10.1111/aos.14843] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/10/2020] [Revised: 11/24/2020] [Accepted: 02/23/2021] [Indexed: 12/17/2022]
Abstract
BACKGROUND/AIMS Retinal haemangioblastomas (RH) remain a major cause of visual impairment in patients with von Hippel-Lindau (VHL) disease. Identification of genotype-phenotype correlation is an important prerequisite for better management, treatment and prognosis. METHODS Retrospective, single-centre cohort study of 200 VHL patients. Genetic data and date of onset of RH, central nervous system haemangioblastomas (CNSH), pheochromocytoma/paraganglioma (PPGL), clear cell renal cell carcinoma (ccRCC) and pancreatic neuroendocrine neoplasm (PNEN) were collected. The number and locations of RH were recorded. RESULTS The first clinical finding occurred at an age of 26 ± 14 years (y) [mean ± SD]. In 91 ± 3% (95% CI 88-94) of the patients, at least one RH occur until the age of 60y. A total of 42 different rare VHL gene variants in 166 patients were detected. A higher age-related incidence of RH, CNSH, ccRCC and PNEN was detected in patients with a truncating variant (TV) compared to patients with a single amino-acid substitution/deletion (AASD) (all p < 0.01), while it is reverse for PPGL (p < 0.01). Patients with a TV showed 0.10 ± 0.15 RH per y during their lifetime compared to 0.05 ± 0.07 in patients with AASD (p < 0.02). The median enucleation/phthisis-free survival time in patients with a TV was 56y (95% CI 50-62) compared to 78y (95% CI 75-81) in patients with AASD (p < 0.02). CONCLUSION Compared to patients with AASD, patients with a TV develop RH, CNSH, ccRCC and PNEN earlier. They experience a higher number of RH and bear a higher risk of enucleation/phthisis. Thus, patients with a TV might be considered for a more intensive ophthalmological monitoring.
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Affiliation(s)
- Michael Reich
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Sabine Jaegle
- Institute of Human Genetics Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Elke Neumann‐Haefelin
- Department of Medicine IV Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Jan‐Helge Klingler
- Department of Neurosurgery Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Charlotte Evers
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Moritz Daniel
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Felicitas Bucher
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Franziska Ludwig
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Simone Nuessle
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Julia Kopp
- Institute of Human Genetics Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Daniel Boehringer
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Thomas Reinhard
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Wolf A. Lagrèze
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Clemens Lange
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Hansjuergen Agostini
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
| | - Stefan J. Lang
- Eye Centre Medical Centre ‐ University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany
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Reich M, Dreesbach M, Boehringer D, Schottenhamml J, Gehring E, Scholl HPN, Inglin N, Agostini H, Reinhard T, Lagrèze WA, Spaide RF, Lange C, Maloca PM. NEGATIVE VESSEL REMODELING IN STARGARDT DISEASE QUANTIFIED WITH VOLUME-RENDERED OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. Retina 2021; 41:1948-1957. [PMID: 33438899 DOI: 10.1097/iae.0000000000003110] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/21/2023]
Abstract
PURPOSE To quantify retinal vasculature changes in Stargardt disease1 (STGD1) with volume-rendered optical coherence tomography angiography. METHODS Optical coherence tomography angiography volumes from healthy subjects and two subgroups of patients with STGD1 with the presence/absence of definitely decreased autofluorescence areas were compared. Optical coherence tomography angiography vessel surface area and vessel volume were measured in central zones (Z) of 1-, 2-, and 3-mm diameter. RESULTS Twenty nine eyes of 15 patients with STGD1 (20/9 eyes with/without definitely decreased autofluorescence) and 30 eyes of 15 controls contributed data. An enlarged foveal avascular zone was found in patients with STGD1 without and even more with definitely decreased autofluorescence associated with a vessel rarefication in central and also paracentral zones with unnoticeable autofluorescence. Vessel surface area and vessel volume were reduced in both STGD1 subgroups for all zones (P < 0.0001). Stargardt disease 1 eyes when compared to without definitely decreased autofluorescence showed reduced vessel surface area and vessel volume in Z2+3 (both P < 0.05). CONCLUSION Volume rendering of optical coherence tomography angiography in STGD1 shows a reduced retinal flow in the central macula. This is most likely secondary to loss of neurosensory tissue with disease progression and therefore not likely be favorably influenced by gene transfer and retinal pigment epithelial transplantation. Retinal blood flow assessed by 3D volume-rendered optical coherence tomography angiography could serve as surrogate marker for vascular changes of the central retina.
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Affiliation(s)
- Michael Reich
- Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
| | - Michelle Dreesbach
- Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
| | - Daniel Boehringer
- Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
| | | | - Esteban Gehring
- Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
| | - Hendrik P N Scholl
- Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
- Department of Ophthalmology, University of Basel, Basel, Switzerland
| | - Nadja Inglin
- Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
| | - Hansjuergen Agostini
- Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
| | - Thomas Reinhard
- Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
| | - Wolf A Lagrèze
- Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
| | - Richard F Spaide
- Vitreous Retina Macula Consultants, New York City, New York; and
| | - Clemens Lange
- Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
| | - Peter M Maloca
- Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
- Department of Ophthalmology, University of Basel, Basel, Switzerland
- Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom
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Dadkhah A, Paudel D, Jiao S. Comparative study of optical coherence tomography angiography algorithms for rodent retinal imaging. Exp Biol Med (Maywood) 2021; 246:2207-2213. [PMID: 34120494 DOI: 10.1177/15353702211024572] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/29/2023] Open
Abstract
Optical coherence tomography angiography (OCTA) is a functional extension of optical coherence tomography for non-invasive in vivo three-dimensional imaging of the microvasculature of biological tissues. Several algorithms have been developed to construct OCTA images from the measured optical coherence tomography signals. In this study, we compared the performance of three OCTA algorithms that are based on the variance of phase, amplitude, and the complex representations of the optical coherence tomography signals for rodent retinal imaging, namely the phase variance, improved speckle contrast, and optical microangiography. The performance of the different algorithms was evaluated by comparing the quality of the OCTA images regarding how well the vasculature network can be resolved. Quantities that are widely used in ophthalmic studies including blood vessel density, vessel diameter index, vessel perimeter index, vessel complexity index were also compared. Results showed that both the improved speckle contrast and optical microangiography algorithms are more robust than phase variance, and they can reveal similar vasculature features while there are statistical differences in the calculated quantities.
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Affiliation(s)
- Arash Dadkhah
- Department of Biomedical Engineering, 5450Florida International University, Miami, FL 33174, USA
| | - Dhruba Paudel
- Department of Biomedical Engineering, 5450Florida International University, Miami, FL 33174, USA
| | - Shuliang Jiao
- Department of Biomedical Engineering, 5450Florida International University, Miami, FL 33174, USA
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