Angiomatosis retinae

Schmidt, Dietmar; Ht, Agostini

doi:10.1055/s-2007-963770

Cited by 7 publications

(11 citation statements)

References 46 publications

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“…2, Table 1). Mean age at onset of CNSH and RH in our study was approximately 30 years, which is similar to previous reports (Conway et al 2001;Lonser et al 2003;Schmidt & Agostini 2007). However, these tumours can also appear in childhood (Friedrich 2001;Kanno et al 2013;Findeis-Hosey et al 2016).…”

Section: Discussionsupporting

confidence: 91%

“…Von Hippel-Lindau disease predisposes for different tumours and cysts in multiple organs. Haemangioblastomas of the CNS and in the retina are the most common tumours in patients with VHL (Conway et al 2001;Lonser et al 2003;Schmidt & Agostini 2007) and are commonly the clinical onset of the disease (Liang et al 2007). This is also confirmed in our study (Fig.…”

Section: Discussionsupporting

confidence: 90%

“…Therefore, the ophthalmologists play an important role in the early diagnosis of the VHL disease. The earlier the disease is detected, the earlier therapeutic measures can be initiated, improving the patient's prognosis (Schmidt et al 2000;Friedrich 2001;Schmidt & Agostini et al 2007). Identification of possible genotypephenotype correlation in VHL disease is an important prerequisite for better management, treatment and prognosis (Friedrich 2001).…”

Section: Discussionmentioning

confidence: 99%

“…Central nervous system haemangioblastomas (CNSH) and Retinal haemangioblastomas (RH) are the most common tumours in VHL patients (Conway et al 2001;Lonser et al 2003;Schmidt & Agostini 2007) and are commonly the onset of disease (Liang et al 2007). Retinal haemangioblastomas (RH) are benign vascular lesions located in the peripheral retina or juxtapapillary (Singh et al 2001;Binderup et al 2018).…”

Section: Introductionmentioning

confidence: 99%

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Genotype–phenotype correlation in von Hippel‐Lindau disease

Reich

Jaegle

Neumann-Haefelin

et al. 2021

Acta Ophthalmologica

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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 AE 14 years (y) [mean AE SD]. In 91 AE 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 AE 0.15 RH per y during their lifetime compared to 0.05 AE 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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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Genotype–phenotype correlation in von Hippel‐Lindau disease

Reich

Jaegle

Neumann-Haefelin

et al. 2021

Acta Ophthalmologica

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“…VHLD is an autosomal dominantly inherited familial phacomatosis that predisposes for different tumors and cysts in multiple organs. Hemangioblastomas in the central nervous system and RCHs are the most common tumors in patients with VHLD 9 – 11 and are often the onset of VHLD. 12 The frequency of RCHs in patients with VHLD varies from 49% to 85%.…”

Section: Introductionmentioning

confidence: 99%

Comparison of Current Optical Coherence Tomography Angiography Methods in Imaging Retinal Hemangioblastomas

Reich

Glatz

Boehringer

et al. 2020

Trans. Vis. Sci. Tech.

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To compare spectral-domain (SD) and swept-source (SS) optical coherence tomography angiography (OCTA) for imaging retinal capillary hemangioblastomas (RCHs) in von Hippel-Lindau disease (VHLD). Methods: Prospective single-center cross-sectional study. Tumor size (TS) of perfused RCHs was assessed clinically in relation to the optic disc size. For both technologies, SD-OCTA and SS-OCTA, corresponding images with a scan size of 3 × 3 mm 2 and 6 × 6 mm 2 , respectively, were overlaid according to the set of marker positions to determine the TS. Results: From 200 patients with VHLD, 48 patients showed 84 RCHs. SD-OCTA images of 39 RCHs (46.4%) and SS-OCTA images of 48 RCHs (57.2%) were suitable for analysis. The average in OCTA-measured TS of 1.60 ± 2.58 mm 2 (range, 0.01-10.43) was congruent to the clinically assessed TS in 81.3% of cases (r = 0.86, P < 0.0001). TS measured in SD-OCTA compared to SS-OCTA showed similar values and a high correlation (all P < 0.0001). Nevertheless, despite the similarities, a slight trend in SS-OCTA was observed whereby with increasing TS, an elevated TS was detected compared to SD-OCTA (3 × 3-mm 2 scans: mean difference of 0.03 ± 0.04 mm 2 , 6 × 6-mm 2 scans: 0.08 ± 0.19 mm 2). However, within the same imaging technology method, TS values almost did not differ (SD-OCTA: mean difference of 0.01 ± 0.02 mm 2 , SS-OCTA: 0.001 ± 0.01 mm 2). Conclusions: OCTA may serve as an additional tool for diagnosis and monitoring of RCHs. Nevertheless, due to the differences between the technologies, the values cannot be used interchangeably. Translational Relevance: SD-OCTA and SS-OCTA are suitable to detect and monitor RCHs and provide a more detailed assessment about the TS than this is clinically possible.

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