How ‘eye’ helped in von Hippel-Lindau syndrome

2021 ◽  
pp. 112067212110356
Author(s):  
Swati Tyagi ◽  
Kritika Chopra Kumar ◽  
Komal Saluja
Keyword(s):  
Renal Cysts ◽  
Argon Laser ◽  
Visual Outcome ◽  
Von Hippel Lindau ◽  
Retinal Lesions ◽  
Ocular Manifestations ◽  
Good Visual Outcome ◽  
Argon Laser Photocoagulation ◽  
Systemic Examination ◽  
Von Hippel Lindau Syndrome

Background: Von Hippel-Lindau syndrome is a rare autosomal dominantly inherited multisystemic oncologic syndrome, presenting predominantly with angiomatosis in embryologically similar neurologic tissue such as retina, cerebellum and adrenals. Retinal hemangioblastomas are the hallmark ophthalmic finding. In this case report, we describe the importance of timely diagnosis, thorough systemic examination and treatment of bilaterally asymmetrical retinal hemangioblastomas in a young adult male. Case presentation: A 31-year-old male presented with painless diminution of vision in both eyes, associated with eyestrain and headache. Multiple asymmetric retinal lesions and dilated feeder vessels were noted on ophthalmoscopic examination and confirmed by fluorescein angiography to be retinal hemangioblastomas. Comprehensive systemic examination revealed cerebellar hemangioblastomas and multiple pancreatic and renal cysts. Treatment of retinal lesions was done by combination therapy of argon laser photocoagulation and cryopexy, which lead to a good visual outcome. Subsequently, neurosurgical resection of cerebellar hemangioblastoma proved to be lifesaving for the patient. Conclusion: RHBs are the earliest, easiest and the most frequently detected manifestation of VHL. Identification of ocular manifestations play a pivotal role in early diagnosis and timely intervention in VHL syndrome, thereby significantly reducing associated morbidity and mortality. Therefore, an ophthalmologist’s role is crucial in the management of these potentially deadly tumours.

Hemangioblastomas of the central nervous system

1989 ◽  
Vol 70 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Hartmut P. H. Neumann ◽  
Hans R. Eggert ◽  
Klaus Weigel ◽  
Hartmut Friedburg ◽  
Otmar D. Wiestler ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Screening Program ◽  
Family Background ◽  
Renal Cysts ◽  
Pancreatic Cysts ◽  
Content Type ◽  
Von Hippel Lindau ◽  
The Central Nervous System ◽  
Von Hippel Lindau Syndrome

✓ The findings of a 10-year study (1976 to 1986) conducted in southwest Germany on hemangioblastomas (HBL's) of the central nervous system (CNS) are presented. During that period, 47 HBL's were diagnosed and surgically removed in 44 patients, with a good postoperative survival rate and prognosis. The majority (83%) of these tumors were located in the cerebellum. By thorough clinical examination of the patients and careful evaluation of their family background, it was found that 23% of the HBL patients were afflicted with von Hippel-Lindau syndrome. In addition to the CNS tumors, 14 neoplastic or similar lesions were detected in other tissues. These included angiomatosis of the retinae, pheochromocytomas, pancreatic cysts, renal cysts, and renal carcinoma. The diagnosis of von Hippel-Lindau syndrome was thus established in seven families. The authors suggest the need for a screening program for patients with HBL of the CNS which is designed to confirm or exclude ocular or visceral lesions associated with von Hippel-Lindau syndrome.

Choroidal Neovascularization Secondary to Vitrectomy for Idiopathic Epiretinal Membrane: Report of an Unusual Case

2003 ◽  
Vol 13 (2) ◽  
pp. 218-220 ◽  
Author(s):  
T. Micelli Ferrari ◽  
R. Dammacco ◽  
G.M. Quaranta ◽  
N. Cardascia ◽  
F. Boscia ◽  
...  
Keyword(s):  
Choroidal Neovascularization ◽  
Present Report ◽  
Argon Laser ◽  
Visual Outcome ◽  
Common Finding ◽  
Unusual Complication ◽  
Epiretinal Membranes ◽  
Old Patients ◽  
Poor Visual Outcome ◽  
Argon Laser Photocoagulation

Purpose Epiretinal membranes (ERM) are a common finding in old patients. Pars plana vitrectomy is effective for removing ERM from the macula, but some postoperative complications are relatively frequent. In the present report, we describe a 73-year-old man in whom extrafoveal choroidal neovascularization developed four months after surgery. Methods Choroidal neovascularization was treated by argon laser photocoagulation. Results: Six months after treatment, the choroidal neovascularization was obliterated, with no recurrence of ERM. Conclusions Choroidal neovascularization can be an unusual complication of ERM surgery, and should be suspected in case of poor visual outcome or recurrence of symptoms.

scholarly journals Diffuse uveitis and chorioretinal changes after yellow fever vaccination: a re-emerging epidemic

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Paula M. Marinho ◽  
Heloisa Nascimento ◽  
Andre Romano ◽  
Cristina Muccioli ◽  
Rubens Belfort
Keyword(s):  
Yellow Fever ◽  
Oral Prednisone ◽  
Visual Outcome ◽  
Vascular Density ◽  
Case Presentation ◽  
Prednisone Dose ◽  
Ocular Manifestations ◽  
Keratic Precipitates ◽  
Good Visual Outcome ◽  
Yellow Fever Vaccination

Abstract Background With increasing incidence of yellow fever, mass campaign vaccinations are underway and little ophthalmological alterations have been reported in literature, specially regarding non-combined vaccines. Case presentation We report the case of a patient with no previous ocular or systemic diseases whom received a single dose of yellow fever vaccination and developed haematological, hepatic and renal alterations progressing with a later onset bilateral asymmetric diffuse uveitis. Ophthalmological findings included fine keratic precipitates scattered throughout the cornea and mild vitritis. Multimodal evaluation showed subtle puntiform choriocapillaris changes with decreased vascular density associated. The patient had a good visual outcome after mild oral prednisone dose, but the image findings have not presented remission. Conclusions Clinicians should be aware of clinical and subclinical ocular manifestations such as subtle puntiform choriocapillaris changes as possible vaccine-related adverse events with potential to impact vision.

scholarly journals A Malignant Pheochromocytoma in a Child with von Hippel-Lindau Mutation

2017 ◽  
Vol 90 (3) ◽  
pp. 356-358
Author(s):  
Gheorghe Popa ◽  
Cristina Lucia Blag ◽  
Mădălina Bota ◽  
Adriana Zolog
Keyword(s):  
Chromaffin Cells ◽  
Clear Cell ◽  
Clinical Symptoms ◽  
Renal Cysts ◽  
Malignant Pheochromocytoma ◽  
Cell Renal Cell Carcinoma ◽  
Von Hippel Lindau ◽  
Abdominal Mri ◽  
Von Hippel Lindau Syndrome

Pheochromocytoma is a rare neuroendocrine tumor that arises from the chromaffin cells of the sympathetic nervous system. Over one third of pheochromocytomas are associated with germline mutations. We describe a 3 year-old girl with an inherited right adrenal malignant pheochromocytoma, with the mother diagnosed with von Hippel-Lindau syndrome. Genetic tests revealed the presence of the VHL c 244 C>G (p. Arg 82 Gly) heterozygote mutation in the mother, as well as in the child. After 6 months from the complete resection of the tumor, the patient is without any clinical symptoms, with normal blood pressure, normal ophthalmoscopy, no tumor markers and no evidence of tumor on cerebral or abdominal MRI. Lifelong complex follow-up is needed, as it is known that at a later age VHL mutation may cause retinal angiomas, cerebellar and spinal hemangioblastomas, relapsed pheocromocytoma, pancreatic and renal cysts, clear cell renal cell carcinoma and endolymphatic sac tumors. 

Von Hippel-Lindau syndrome: in vivo portrait with 68Ga-DOTANOC PET-CT

2017 ◽  
Author(s):  
Moreira Ana Paula ◽  
Gracinda Costa ◽  
de Lima Joao Pedroso
Keyword(s):  
Von Hippel Lindau ◽  
Pet Ct ◽  
Von Hippel Lindau Syndrome

VON HIPPEL–LINDAU SYNDROME

2020 ◽  
pp. 1005-1020
Author(s):  
Samantha E. Greenberg ◽  
Luke D. Maese ◽  
Benjamin L. Maughan
Keyword(s):  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Iatrogenic ureteric stricture post image guided renal cryoablation in a patient with von hippel-lindau syndrome

2021 ◽  
Vol 16 (8) ◽  
Author(s):  
Helen Ng ◽  
Vinson Wai-Shun Chan ◽  
Jon Cartledge ◽  
Michael Kimuli ◽  
Christy Ralph ◽  
...  
Keyword(s):  
Von Hippel Lindau ◽  
Image Guided ◽  
Von Hippel Lindau Syndrome ◽  
Ureteric Stricture

Retinotomy and retinectomy for anterior inferior proliferative vitreoretinopathy: Can visual outcome be improved?

2021 ◽  
pp. 112067212110128
Author(s):  
Mumin Hocaoglu ◽  
Murat Karacorlu ◽  
M. Giray Ersoz ◽  
Isil Sayman Muslubas ◽  
Serra Arf
Keyword(s):  
Proliferative Vitreoretinopathy ◽  
Rhegmatogenous Retinal Detachment ◽  
Silicone Oil ◽  
Clinical Stage ◽  
Case Series ◽  
Visual Outcome ◽  
Attachment Rate ◽  
Good Visual Outcome ◽  
The Mean

Purpose: To describe the treatment outcomes and prognostic factors of retinotomy/retinectomy for rhegmatogenous retinal detachment (RD) complicated anterior inferior proliferative vitreoretinopathy (PVR). Methods: Retrospective, nonrandomized, single-center case series. The outcomes of 126 cases of retinotomy/retinectomy for RD complicated by advanced (Grade C) anterior inferior PVR managed consistently by one surgeon during a 15-year period were evaluated. Results: Forty-two eyes (33%) had primary RDs and 84 (67%) had recurrent RDs. The extent of retinotomy/retinectomy varied: 90° in 21 eyes (17%), >90° to <180° in 49 eyes (39%), and ⩾180° to ⩽240° in 56 eyes (44%). The retinotomy/retinectomy location was peripheral in 58 eyes (46%) and equatorial in 68 eyes (54%). The mean follow-up period was 43 ± 42 months. The silicone oil (SO) was removed from 98% of the eyes. The single-operation success rate after the primary retinectomy was 87%, and the final attachment rate was 94%. Visual acuity improved from 20/630 to 20/160 ( p < 0.001). Vision ⩾20/200 was achieved in 101 eyes (80%). Good visual outcome was correlated positively with preoperative VA ( p = 0.02), previous vitrectomy with gas tamponade ( p = 0.007), and was negatively correlated with number of previous RD operations ( p = 0.01), larger extent of RD ( p = 0.02) and more extensive retinotomy/retinectomy ( p = 0.04). Conclusions: An appropriate and timely intervention, including vitrectomy alone, inferior relaxing retinotomy/retinectomy and standard SO tamponade provide satisfactory outcomes for RDs complicated by PVR. Lesser extension of grade C PVR at baseline, such as PVR limited to one quadrant should encourage vitreoretinal specialists to consider retinotomy/retinectomy at a milder clinical stage of PVR development.

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