Rating Appears in Miscellaneous Condition/keywords retinal capillary hemangioblastoma, Von Hippel-Lindau Photographer Jonathan Rosen - Beth Israel Lahey Health Imaging device Fundus camera TopCon 50DX Description Fundus photo of a 42-year-old woman who presented [imagebank.asrs.org]

All of the patients presented with type 1 VHL(without PCC) except one case presenting with type 2 VHL(with PCC), and most of them were associated with RH or CNSH (29–33). [frontiersin.org]

A large retinal hemangioblastoma approximately 6 mm in diameter is present in the superonasal periphery, surrounded by exudation. A macular epiretinal membrane is present. B. [ncbi.nlm.nih.gov]

They are one of the most common VHL manifestations, affecting about 60% of VHL patients, and are frequently one of the earliest to present themselves. [vhl.org]

Discussion We present a case of a previously undiagnosed patient with VHL disease with bilateral RHs in different clinical stages. [karger.com]

• Short Arm

  Pathophysiology VHL results from a germline mutation in the VHL gene which is a tumour suppressor gene located on the short arm of chromosome 3 (3p25–26). [eyewiki.aao.org]

  Chapter 130 Capillary Hemangioblastoma of the Retina and von Hippel–Lindau Disease Genetic associations In 1993, the discovery of the VHL gene,6 located on the short arm of chromosome 3 (3p25–26), was a seminal step in the molecular study of VHL disease [entokey.com]

Five patients had been previously diagnosed with VHL syndrome, while the other seven had negative clinical and genetic workups for VHL. Figure 1. [retinatoday.com]

[…] within four to seven days after treatment. [ncbi.nlm.nih.gov]

Indeed, there is no definite treatment protocol for JRCH; nevertheless, assessment of JRCH activity is very important in order not to miss the timing of treatment; but nowadays there has been few methods to evaluate the activity. [oncotarget.com]

Orlando, FL, USA, 1999 ↑ J.D Palmer, E.S Gragoudas Advances in treatment of retinal angiomas Int Ophthalmol Clin, 37 (1997), pp. 150–170 ↑ J.D Palmer, E.S Gragoudas. Advances in treatment of retinal angiomas. [eyewiki.aao.org]

Treatment and follow-up Clinical management of VHL should be multidisciplinary and comprehensive because of its feature of multi-organ involvement. Here we focus on the treatment of VHL-associated RH. [frontiersin.org]

Electronic survey results: preferred treatment for the right eye. [karger.com]

For juxtapapillary RH, although active laser treatment can effectively control the progression of RH lesions, it may lead to poor prognosis of vision and impaired visual field due to damage to the retinal nerve fiber layer (3, 48). [frontiersin.org]

The prognosis for the most severely-affected eyes is poor, but many individuals manifesting milder ocular VHL disease and receiving timely and appropriate treatment can retain good vision. [ncbi.nlm.nih.gov]

The etiology of retinal neovascularization in VHL is unknown. We describe widefield fluorescein angiography features of a patient with VHL. Case presentation A 66-year-old female with known VHL disease was referred for ocular evaluation. [journalretinavitreous.biomedcentral.com]

Epidemiology of ocular lesions of von hippel–lindau disease The true prevalence of the ocular manifestations of this rare systemic disease is difficult to ascertain. [entokey.com]

The underlying pathophysiology of peripheral retinal nonperfusion in VHL is unknown. We hypothesize that the hemangioblastoma could be causing a vascular steal syndrome from the peripheral retina, which subsequently causes the nonperfusion. [journalretinavitreous.biomedcentral.com]

Pathophysiology VHL results from a germline mutation in the VHL gene which is a tumour suppressor gene located on the short arm of chromosome 3 (3p25–26). [eyewiki.aao.org]

We suspect that prophylactic treatment to areas of peripheral retinal nonperfusion related to retinal hemangioblastoma could decrease levels of VEGF and prevent development of vision-threatening neovascularization. [journalretinavitreous.biomedcentral.com]

Approach to Management of Ocular VHL Disease The goal of treatment for extrapapillary RH is typically destruction of the tumor, to prevent further growth or exudation. [ncbi.nlm.nih.gov]

Am-Surg. 2000 Dec; 66(12): 1085-91; discussion 1092 Junien,-C; Dupret,-J-M; Gallou,-C; Longuemaux,-S; Richard,-S; Saquet,-C; Krishnamoorty,-R; Delomenie,-C; Droz,-D; Bouvier,-R; Chauveau,-D; Joly,-D; Grunfeld,-J-P; Chretien,-Y; Mejean,-A; Beroud,-C Prevention [malattierare.regione.veneto.it]