Presentation
Because of the high risk of the presence of other VHL lesions, thorough screening for VHL is mandatory for patients presenting with a solitary juxtapapillary angioma. [ncbi.nlm.nih.gov]
Abstract A 31-year-old man presented to us with diminution of vision in the right eye which he noticed since 10 days, with a visual acuity of hand motions only. [unboundmedicine.com]
Here, we describe a 36-year-old myopic woman with a known history of ROP who presented with a vitreous hemorrhage in the right eye. [karger.com]
Cardiovascular
- Vascular Disease
Ryan Springer Science & Business Media, 29 mar 2010 - 779 pagine Vascular diseases of the retina are a major cause of blindness among all age groups. [books.google.it]
Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. This second volume covers tumors, the phacomatoses, and vascular disease. [books.google.de]
FFA) Retinal Macrovessels and Arteriovenous Communications Tortuous Vessels, Vascular Abnormalities Unilateral Optic Disc Pseudodoubling (Colour Images) Diseases of Hematopoesis (see under Systemic Diseases) Hereditary Degenerations and Dystrophies Infections [atlasophthalmology.net]
Machemer R, Williams JM (1988) Pathogenesis and therapy of traction detachment in various retinal vascular diseases. Am J Ophthalmology 105: 170–181 Google Scholar 26. [link.springer.com]
Machemer R, Williams JM (1988) Pathogenesis and therapy of traction detachment in various retinal vascular diseases. Am J Ophthalmology 105: 170–181 26. [springermedizin.de]
Eyes
- Redness of Eye
Findings at that time were a red left eye and intraocular pressure of 44 mmHg. She then underwent laser trabeculoplasty and was stable on medical therapy for several years. [meajo.org]
Skin
- Skin Lesion
Skin lesions first appeared when she was approximately 25 years old. [kundoc.com]
[…] in the skin, particularly along the back, occur in cattle. [medical-dictionary.thefreedictionary.com]
It is elusive and histologically appears indistinguishable to benign skin lesions - Spitz Naevus, Haemangioma. What is Melanoma, Definitions, Prognoses, Types, Causes, Pictures. The human bod produces two forms of melanin. [urobte-csodas.com]
Urogenital
- Hematuria
[…] diabetes (from blockage of insulin delivery), digestion irritability, malabsorption, jaundice Pheochromocytoma, Paraganglioma High blood pressure, panic attacks (or post-operative adrenal insufficiency) Kidney Cysts, Renal Cell Carcinoma Lower back pain, hematuria [rarediseases.org]
Urine collection should be over a 24-hour period. [22] Urinalysis is performed for hematuria, which can indicate a renal abnormality. Urine cytology is used to detect findings that suggest renal cell carcinoma. [emedicine.medscape.com]
Workup
A workup for the presence of VHL is pertinent in patients presenting with this tumor entity. [ncbi.nlm.nih.gov]
Early diagnosis and treatment of retinal angiomas with an appropriate systemic workup for associated systemic diseases can prevent visual loss and morbidity and mortality. [pubmed.ncbi.nlm.nih.gov]
The patient was referred to her internal medicine physician for genetic testing and workup for the associated systemic manifestations of von Hippel-Lindau disease. [westcoastretina.com]
Colonoscopy
- Polyps
Clinical features include orange-red subretinal nodules corresponding to dilated polyp-like lesions and a frequent association with hemorrhagic or serous pigment epithelial detachments, retinal edema, or subretinal hemorrhage. [retinalphysician.com]
In PCV, polyps appear in OCT as abrupt protrusions from the RPE/Bruch’s membrane band, often associated with neurosensory detachment (27,28). The double layer sign, RPE irregularity and a notched PED are hallmarks of PCV on OCT (32). [amdbook.org]
Treatment
Treatment was rendered over 21 months' time. The treatment resulted in graduate resolution of marked macular edema and exudation, with a gain in visual acuity. [ncbi.nlm.nih.gov]
Treatment of leaking angioma from VHL treated with laser. [aao.org]
Argon laser treatment of von Hippel-Lindau retinal angiomas. I. Clinical and angiographic findings. Arch. Ophthalmol. 92: 121–125 (1974). Google Scholar 17. Goldberg, R.E., T.R. Pheasant & J.A. Shields. Cavernous hemangioma of the retina. [link.springer.com]
Early diagnosis and treatment of retinal angiomas with an appropriate systemic workup for associated systemic diseases can prevent visual loss and morbidity and mortality. [pubmed.ncbi.nlm.nih.gov]
Prognosis
The format includes the CPT codes for billing purposes, short description of the condition, etiology/incidence, course/prognosis, laboratory findings, differential diagnosis; prophylaxis, treatment (local and systemic, surgical or other), miscellaneous [books.google.de]
Prognosis Prognosis depends on the occurrence of multiple tumors. RCC is the main cause of death, followed by CNS hemangioblastomas. [orpha.net]
Prognosis is poor, with a median survival of ~50 years, with the most common cause of death being RCC and cerebellar hemangioblastomas 1. [radiopaedia.org]
Etiology
The format includes the CPT codes for billing purposes, short description of the condition, etiology/incidence, course/prognosis, laboratory findings, differential diagnosis; prophylaxis, treatment (local and systemic, surgical or other), miscellaneous [books.google.de]
GENERAL PREVENTION None ETIOLOGY This is a genetic condition. [entokey.com]
Indoor Mold Spore Exposure: A Possible Factor in the Etiology of Multifocal Choroiditis Reuven Rudich, MD, John Santilli, MD, and William J. [kundoc.com]
Epidemiology
BASICS DESCRIPTION Rare, congenital retinal vascular hamartoma EPIDEMIOLOGY Incidence Very rare, and cannot be accurately specified as many patients are asymptomatic and do not seek ophthalmic care. [entokey.com]
Summary Epidemiology Prevalence is estimated at 1/53,000 and annual birth incidence at 1/36,000. Men and women are equally affected. Mean age at diagnosis is 26 years (range: infancy - 7th decade). [orpha.net]
A review of the physiopathlology, epidemiology, diagnosis, and treatment for this rare condition. By Hadas Newman, MD ; and Paul T. [retinatoday.com]
Epidemiology RAP is now considered a well-established neovascular phenotype of AMD, with distinct clinical and epidemiologic features, most likely due to genetic differences still not completely understood (46). [amdbook.org]
Renal tumours may be removed by a partial nephrectomy or other techniques such as radiofrequency ablation. [8] Epidemiology [ edit ] VHL disease has an incidence of one in 36,000 births. [en.wikipedia.org]
Pathophysiology
Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]
Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosis of suspected von Hippel-Lindau (VHL) disease Diagnosis of suspected VHL-related hereditary erythrocytosis Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.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]
Further longitudinal studies with OCTA may bring further insights on the pathophysiology of RAP and establish OCTA imaging as an additional biomarker to guide the treatment and monitoring of these lesions. [amdbook.org]
Prevention
Early diagnosis and treatment of retinal angiomas with an appropriate systemic workup for associated systemic diseases can prevent visual loss and morbidity and mortality. [ncbi.nlm.nih.gov]
The normal VHL gene acts as a tumor-suppressor gene, with the function of preventing the formation of tumors. [rarediseases.org]
A number of medications are being investigated to prevent hemorrhage and to prevent the growth of new lesions in those with the familial form. Expanded information on each of these topics can be found using our menus on the left. [angiomaalliance.org]
GENERAL PREVENTION None ETIOLOGY This is a genetic condition. [entokey.com]