Early Detection of Retinal Hemangioblastomas in Von Hippel–lindau Disease Using Ultra-Widefield Fluorescein Angiography

Chen, Xuejing; Sanfilippo, Christian J.; Nagiel, Aaron; Hosseini, Hamid; Mitchell, D W A; McCannel, Colin A.; Schwartz, Steven D.; McCannel, Tara A.

doi:10.1097/iae.0000000000001601

Cited by 25 publications

(11 citation statements)

References 18 publications

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“…Couples commonly shy away from CS due to the fear and anticipated negative feelings related to carrier screening [22,31]. Couples have cited time limitation, lack of interest, travel limitations, health insurance discrimination, and long-term care as additional reasons for not undergoing CS [25,32,33]. A higher decline rate has been found among unaffected populations as well with healthy patients perceiving the results of testing as less valuable or were less willing to put in the effort required to participate [25,34].…”

Section: Discussionmentioning

confidence: 99%

Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes

Pereira

Wood

Luong

et al. 2019

J Assist Reprod Genet

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Purpose Expanded genetic carrier screening (ECS) is an important part of gynecological practice and preconception planning. We evaluated the awareness and attitudes among women regarding ECS and factors that may influence decision-making in a family planning context. Methods A 32-question survey in an academic university practice was given to 521 women who were either currently pregnant (n = 108), undergoing gynecologic care who were considering future fertility (n = 308), and considering or receiving fertility treatment (n = 105). Data are reported descriptively. Results Forty-seven percent (n = 246) of patients were aware of ECS. Though most reported feeling positive or neutral towards ECS, 51% (n = 263) reported no desire for testing. Fifty-eight percent (n = 303) felt it beneficial to know their carrier status, and 55% (n = 257) said it was their responsibility to undergo testing. Those considering future fertility were found to have a more positive attitude towards ECS (51.4%) than those considering or receiving fertility treatment (34%). For positive carriers of a genetic disorder, 228 (49%) of patients would proceed with having their partner screened, 58 (13%) would undergo prenatal screening only and 12 (2.6%) would continue with vitro fertilization (IVF). Related to cost for ECS, 53.5% (n = 191) would be willing to pay at least $50-100 for testing, while 29% (n = 146) would not pay anything out of pocket. Conclusions Despite patients' beliefs that it would be beneficial and their responsibility to undergo carrier status testing, the majority reported no desire for ECS and many were unwilling to pay out of pocket. Further education is necessary to reconcile the gap between technology and patient decision-making.

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Section: Discussionmentioning

confidence: 99%

Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes

Pereira

Wood

Luong

et al. 2019

J Assist Reprod Genet

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“…We explored the utility of OCTA in our two participants with juxtapapillary RHs to evaluate any structural changes to these highly vascular neoplasms during the trial. Traditional FA is useful for detection of RHs, 35 but has limited utility for assessment of RH status in management of these lesions beyond helping to demarcate borders in early angiographic frames 4 . OCTA offers potential quantitation of tumour volume and vascularity beyond what has been possible with other modalities.…”

Section: Discussionmentioning

confidence: 99%

Intravitreous treatment of severe ocular von Hippel–Lindau disease using a combination of the VEGF inhibitor, ranibizumab and PDGF inhibitor, E10030: Results from a phase 1/2 clinical trial

Hwang

Chew

Cukras

et al. 2021

Clinical Exper Ophthalmology

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Background Treatment options for severe ocular von Hippel–Lindau (VHL) disease are limited. This trial evaluated preliminary safety and potential efficacy of combination intravitreous injection with ranibizumab, a vascular endothelial growth factor (VEGF) inhibitor, and E10030, a PDGF inhibitor, for eyes with VHL disease‐associated retinal hemangioblastoma (RH) not amenable or responsive to thermal laser photocoagulation. Methods This was a prospective, single‐arm, open‐label phase 1/2 study, comprised of three adults with VHL‐associated RH and vision loss. Intravitreous injections of ranibizumab (0.5 mg) and E10030 (1.5 mg) were given unilaterally every 4 weeks in the study eye through 16 weeks, then every 8 weeks through 48 weeks. Supplementary standard care therapies were allowed without restriction after 40 weeks. The primary outcome was the ocular and systemic adverse effect profile at 52 weeks. Secondary outcomes included changes in best‐corrected visual acuity (BCVA), RH size, exudation, epiretinal proliferation and retinal traction, and need for ablative treatment of RH or ocular surgery at week 52. Results Three participants each received nine injections prior to week 52 and were followed for 104 weeks. One participant manifested mild episodic ocular hypertension in the study eye. Change in BCVA in the study eye at week 52 for the three participants was −5, −12 and +2 letters. No reduction in RH size was measured at 52 weeks. Variable mild improvements in exudation in two participants at week 16 were not sustained through week 52. Conclusions Combination intravitreous injection with ranibizumab and E10030 demonstrated a reasonable preliminary safety profile, but limited treatment effect.

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“…[ 93 ] It helps in identifying several pathognomic features like rapid filling and quick wash out of dye seen in choroidal hemangiomas, identification of the “extremely peripheral” vasoproliferative tumors within the accompanying fibrosis and retinal detachment, and localizing small peripheral angiomas oblivious to ophthalmoscopic examination. [ 93 100 ] Novel features like abnormal capillary network, capillary leakage and telangiectasia have been described in retinal hemangioblastomas using UWF-FFA. [ 101 ]…”

Section: Ultra-wide Field Imagingmentioning

confidence: 99%

Ultra-wide field retinal imaging

Kumar

Surve

Kumawat

et al. 2021

Indian Journal of Ophthalmology

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The peripheral retina is affected in a variety of retinal disorders. Traditional fundus cameras capture only a part of the fundus even when montaging techniques are used. Ultra-wide field imaging enables us to delve into the retinal periphery in greater detail. It not only facilitates assessing color images of the fundus, but also fluorescein angiography, indocyanine green angiography, fundus autofluorescence, and red and green free images. In this review, a literature search using the keywords “ultra-widefield imaging”, “widefield imaging”, and “peripheral retinal imaging” in English and non-English languages was done and the relevant articles were included. Ultra-wide field imaging has made new observations in the normal population as well as in eyes with retinal disorders including vascular diseases, degenerative diseases, uveitis, age-related macular degeneration, retinal and choroidal tumors and hereditary retinal dystrophies. This review aims to describe the utility of ultra-wide field imaging in various retinal disorders.

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Early Detection of Retinal Hemangioblastomas in Von Hippel–lindau Disease Using Ultra-Widefield Fluorescein Angiography

Abstract: Ultra-widefield FA using the Optos camera is helpful for the evaluation and management of patients with von Hippel-Lindau disease. The UWF FA with gaze steering appears to detect more hemangioblastomas than ophthalmoscopy and conventional angiography.

Cited by 25 publications

References 18 publications

Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes

Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes

Intravitreous treatment of severe ocular von Hippel–Lindau disease using a combination of the VEGF inhibitor, ranibizumab and PDGF inhibitor, E10030: Results from a phase 1/2 clinical trial

Ultra-wide field retinal imaging

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