retinal angiomatosis

7/29/2019 Retinal Angiomatosis

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Retinal angiomatosis. Ocular manifestation of von Hippel-Lindau disease.Ophthalmologe.2007 Feb;104(2):107-13.Von Hippel-Lindau disease (VHL disease) is a rare multisystem disorder of autosomaldominant inheritance with high penetrance. Inactivation of the VHL-protein leads toan increased expression of hypoxia induced growth factors. Predilection sites for

tumor growth are the retina, the central nervous system and various visceral organs.Retinal capillary hemangioblastoma is one of the earliest manifestations of VHLdisease. The lifetime risk of permanent visual loss defined as a visual acuity of 0.5 orless is about 35% in gene carriers. It increases to 60% if there is already retinalcapillary hemangioblastoma. If VHL disease is suspected, a careful ophthalmologicalexamination should be included in the clinical screening program. Having confirmedthe diagnosis, regular ophthalmoscopic monitoring is essential in order to detectdeveloping tumors at an early stage. Therapeutic options for small to medium sizedperipheral tumors are laser or cryocoagulation; larger- hemangioblastomas can betreated by brachytherapy using ruthenium plaques, while asymptomatic

juxtapapillary tumors can be observed at regular intervals.

Capillary hemangioma of the retina in cases of von Hippel-Lindau syndrome. New

therapeutic directions.Ophthalmologe. 2007 Feb;104(2):114-8.

Thermal photocoagulation of small peripheral angiomas is the treatment of choice forcapillary hemangiomas in patients with von Hippel-Lindau disease. Larger peripheralangiomas are better treated with beta-ray brachytherapy resulting in improvedresults in terms of local tumor control and the side effects of treatment.Photodynamic treatment is an alternative option in the management of capillaryhemangiomas of the retina. Further improvement of the treatment results ofphotodynamic therapy may be achieved by combination with intravitreal drugs.External beam radiation using either stereotactic techniques or proton radiation mustbe considered as experimental. The treatment of juxtapapillary angiomas is still atherapeutic dilemma. Vitreoretinal surgery should be confined to advanced stageswith tractional detachment or when no other treatment option is available to salvage

the eye.

Retinal capillary hemangiomas and von Hippel-Lindau disease.Semin Ophthalmol. 2006Jul-Sep;21(3):143-50.

von Hippel-Lindau disease is a multisystem familial cancer syndrome that commonlymanifests in the eye as retinal capillary hemangiomas. As the earliest manifestationof the disease, these benign hamartomas can lead to secondary visual loss. Theirtypical clinical characteristics can lead to accurate diagnosis and appropriatetreatment with either laser photocoagulation or cryotherapy enhancing one'sprobability of preserving vision before becoming symptomatic. Accurate diagnosiscan also lead to surveillance of the various other organ systems involved in thedisease such as the CNS, kidneys, adrenal glands and pancreas. This will also enable

the clinician to provide genetic counseling for patients regarding the lifelongmanifestations of this disease.

Spontaneous regression of retinal angiomatous lesions in v. Hippel-Lindau disease(VHL).Eur J Med Res. 2005 Dec 7;10(12):532-4.

BACKGROUND: Very little documentation of spontaneous regression of anangiomatous retinal lesion in v. Hippel-Lindau disease (VHL) exists. It is commonlybelieved that a spontaneous change of hemangiomas into fibrotic lesions occurred.


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PATIENTS/METHODS: Follow-up examinations of four patients with VHL in the FreiburgVHL study were carried out. RESULTS: A 16-year-old girl revealed a vascular lesion atthe border of the optic disc. Control examination nine years later revealed completespontaneous regression of the retinal vascular changes. A slight retinal vascularchange at the superior border in her right eye was found in a 36-year-old woman. Acontrol examination 20 years later revealed regression of the lesion. A 41-year-old

woman showed in the retinal periphery a small fibrotic white hemangioma with apigmented feeder vessel as sign of spontaneous tumor regression. A 12-year-old boyhad a retinal microaneurysm inferior to the optic disc that disappeared several yearslater. CONCLUSION: Documentations of spontaneous regression of minorangiomatous retinal lesions in VHL exist. Such vascular changes are rare. Everyretinal lesion should be controlled by follow-up examination and documentation. Incase of retinal lesion growth, treatment is necessary.

Retinal capillary hemangiomas: clinical manifestations and visual prognosis.Chang GungMed J. 2002 Oct;25(10):672-82.

BACKGROUND: To describe the clinical features, visual outcomes, and therapeuticcomplications of patients with retinal capillary hemangiomas. METHODS: A

retrospective, non-comparative, observational case study of patients diagnosed withretinal capillary hemangiomas was conducted. Twelve patients (13 eyes) at ChangGung Memorial Hospital of Kaohsiung from July 1987 to June 2001 were reviewed.Pre- and post-treatment visual acuity and ocular complications are described.RESULTS: One patient had bilateral and another had unilateral juxtapapillaryhemangiomas. All of the other 10 patients were diagnosed with peripheral retinalcapillary hemangiomas. More patients had retinal capillary hemangiomas located inthe temporal peripheral retina and all had endophytic growth patterns. No patientmet the diagnostic criteria of von Hippel-Lindau disease. Visual acuity levels ofperipheral retinal hemangiomas without exudative retinal detachment oftenremained the same after focal laser treatment. Two patients received vitreoretinalsurgery. Patients with juxtapapillary hemangiomas had variable visual outcomes andvisual field defects during follow-up. CONCLUSION: Early diagnosis of capillary

hemangiomas in the retinal periphery and treatment by focal laser produced goodvisual outcomes. If untreated, the tumors may eventually be complicated withexudative retinal detachment and have a worse visual prognosis even withvitreoretinal surgery.

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecularstudy.Invest Ophthalmol Vis Sci. 2002 Sep;43(9):3067-74.

PURPOSE: To assess the natural history of retinal manifestations in von Hippel-Lindau(VHL) disease and to study the genotype-phenotype correlation. METHODS: Dataconcerning 103 patients with VHL retinal manifestations and 108 patients withoutVHL retinal manifestations were extracted from the French VHL database. Aretrospective study was performed by questionnaire. Patients were classified into

three visual morbidity groups. Molecular analysis of the VHL gene was performed in196 patients. RESULTS: The mean age of ocular manifestations detection was 24.8years. In half of the cases, the ocular manifestations revealed the disease. Half of thecases had bilateral involvement. Visual morbidity was significantly associated withthe retinal hemangioblastoma count but not with other ocular or generalcharacteristics. One third of the patients were classified in the worst visual morbiditygroup at the end of follow-up. Mutations were detected in 81% of patients with retinalhemangioblastomas and in 71% of patients without retinal involvement. Using aPoisson model and a marginal approach, the number of hemangioblastomas, age-


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adjusted, was 2.1 times higher in patients who had a substitution than in patientswith a truncation (95% CI, 1.05-4.44; P < 0.05). CONCLUSIONS: Visual loss remainsone of the major complications of VHL disease, confirming the importance of earlyophthalmologic screening. Visual morbidity was not related to the type of extraocularmanifestation but appeared to be related to the type of germline mutation. However,only further genetic and clinical studies in a larger series of patients will clearly

determine the genotype-phenotype relationship.

Retinal angiomatosis and von Hippel-Lindau disease.Graefes Arch Clin Exp Ophthalmol.2000 Nov;238(11):916-21.

BACKGROUND: To evaluate the significance of angioma number (single or multiple)for the presence of von Hippel-Lindau (VHL) disease in patients presenting withcapillary retinal angioma. METHODS: Forty-one nonrelated patients presenting withcapillary retinal angioma were evaluated. An ophthalmic workup, screening for otherorgan lesions, and molecular genetic screening for a mutation of the VHL gene wasperformed. The diagnosis of VHL was made on the basis of the personal and familyhistory, the presence of other VHL-associated organ lesions, or the presence of amutation of the VHL gene. RESULTS: Thirteen patients (32%) presented with a single

angioma and 28 patients (68%) presented with multiple angiomas. In 81% of allpatients, VHL could be diagnosed. Diagnosis of VHL could be readily made by thepersonal or family history in 51% of all patients. In another 27% of all patients, VHLdisease was evidenced by screening for other VHL-associated lesions. In two patients(3%) VHL could be diagnosed by molecular genetics only. All patients with multipleretinal angiomas had VHL disease and, in 38% of patients with a single angioma, VHLwas present. Reasons for a missing family history in patients with VHL disease werethe presence of a de novo mutation (15% of VHL patients) or clinical anticipation ofVHL disease (18% of VHL patients). CONCLUSION: The presence of multiple retinalangiomas strongly suggests VHL disease, which, however, can be obscured bypresence of a de novo mutation or by clinical anticipation of VHL disease in affectedfamilies. A single retinal angioma may be sporadic as well as the presenting sign ofVHL. Diagnosis and screening for this multitumor syndrome is substantially supportedby molecular genetics.

Hemangioblastomas of the retina: impact of von Hippel-Lindau disease. Invest OphthalmolVis Sci. 2000 Jun;41(7):1909-15

PURPOSE: To assess the prevalence of von Hippel-Lindau (VHL) disease andprognosis of vision in patients with retinal hemangioblastomas (HBs). METHODS:

Thirty-six consecutive patients with retinal HBs were treated at Helsinki UniversityHospital between 1974 and 1998. Detailed neurologic, ophthalmologic, and radiologicexaminations; pedigree; mutation analyses; and collection of all relevant clinical,imaging, operative, and autopsy data were performed to identify VHL. RESULTS: Themedian follow-up time was 10 years. No patient was lost to follow-up. There werethree patient groups: 1) 11 patients with clinically definite VHL; 2) 10 patients with

clinically suspected VHL with more than one retinal HB (5/10) or visceral cysts (5/10),but with no family history, no detected germ-line mutations, and no VHL-relatedneoplasms; and 3) 15 patients without VHL with a single retinal HB but no other datasuggestive of VHL. In the 11 patients with definite VHL, retinal HBs were detected ata median age of 27 years versus 40 years in the 15 non-VHL patients, and 21 of the22 eyes were affected. Two VHL patients were totally blind at the end of follow-upcompared with one legally blind patient with suspected VHL, but none of the non-VHLpatients was blind. The clinical appearance of HBs did not differ among the patientgroups. CONCLUSIONS: The prevalence of VHL among patients with retinal HBs was


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30% to 58% (11-21 of 36). Visual prognosis was more favorable in non-VHL than VHLpatients. All patients with retinal HB should undergo thorough VHL exclusion.

Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease andcorrelation with germline mutation. Arch Ophthalmol. 1999 Mar;117(3):371-8.

OBJECTIVES: To examine the epidemiologic and clinical characteristics of the ocularmanifestations of von Hippel-Lindau (VHL) disease and to detect phenotype-genotyperelationships of disease severity. DESIGN: A cross-sectional clinical and moleculargenetic study. PATIENTS AND METHODS: One hundred eighty-three affected VHLgene carriers from 81 unrelated pedigrees were interviewed and examined; clinicaldata were also obtained from 12 living and 39 deceased affected relatives. DNAextracted from venous blood was used to identify mutations in the VHL gene.RESULTS: The prevalence of ocular angiomatosis (hemangioblastomas) in von Hippel-Lindau disease was 67.8% (124/183), and the mean number of angiomas in genecarriers was 1.85 (range, 0-15). Neither prevalence nor angioma count increased withage. Severe vision loss in 1 or both eyes was associated with presentation at a youngage. The cumulative probability of incurring vision loss by age 50 years was 35% inall gene carriers, 55% in those with angiomatosis, and significantly worse in those

coming to us with symptoms. Angiomas were nonrandomly distributed in the fundus,occurring rarely at the posterior pole (1% of retinal tumors) and commonly on theoptic disc (8% of eyes) and supratemporal retina. Complications of ocularangiomatosis included disc and retinal neovascularization; secondary angiomaformation; retinal detachment, exudation, and membrane; and retinal and vitreoushemorrhage. Germ-line VHL mutations were detected in 161 of 183 patients and 69(85%) of 81 pedigrees and included deletions (n= 16), missense (mutations causingamino acid substitutions; n = 24), nonsense (premature stop codons; n = 15),frameshift (n = 13), and splice-site (n = 1) mutations. There was no associationbetween the type or position of mutation and the severity of ocular angiomatosis.CONCLUSIONS: A systematic clinical description of a large cohort of VHL genecarriers further defines the ocular phenotype. There is no general influence ofgermline mutation on severity of ocular disease in VHL. CLINICAL RELEVANCE: The

ophthalmic and molecular genetic description of patients with VHL disease.

Retinal vascular hamartoma in von Hippel-Lindau disease.Arch Ophthalmol. 1995Sep;113(9):1163-7.

OBJECTIVE: To diagnose von Hippel-Lindau disease at an early stage in the presenceof atypical retinal lesions. DESIGN: Case series. METHODS: In an 11-yearinterdisciplinary clinical follow-up study of von Hippel-Lindau disease, 52 patientswith retinal angiomas were investigated. RESULTS: Besides retinal angiomas, in fivepatients with von Hippel-Lindau disease or in the close relatives of such patients,unusual retinal vascular hamartomas other than retinal angiomas were detected.Retinal hamartomas are characterized by small, moss fiber-like, relatively flatvascular lesions with smooth and occasionally irregular margins and without enlarged

afferent and efferent vessels. They are located within the superficial retina, usuallyadjacent to a retinal vein. In addition to typical peripheral retinal angiomas, a 28-year-old man with a pheochromocytoma had a treelike hamartoma. In anotherfamily, a brother and sister both had circumscribed red hamartomas with irregularoutlines close to the retinal vessels. On fluorescein angiography, the early arterialfilling of the hamartomas in two of these patients was striking. CONCLUSION: It isprudent to be aware of these unusual vascular retinal changes in von Hippel-Lindaudisease. They may occur in isolation without additional retinal angiomas (as in four ofour patients) but may suggest the presence of von Hippel-Lindau disease.


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Retinal capillary hemangioma. J Am Optom Assoc. 1991 Oct;62(10):776-9

Capillary hemangiomas of the retina, which commonly occur as part of von Hippel'sdisease, are classically composed of a retinal capillary tumor, a large feeder arteriole,and a draining venule. The fundamental pathology is a hamartomatous lesion. In this

paper, the case of an early, incipient lesion will be presented. Since approximately 25percent of patients with angiomatosis retinae develop the life-threatening von Hippel-Lindau disease, the eye care practitioner needs to be aware of this condition. Alsoincluded in the discussion are the treatment options available for these retinalabnormalities.

retinal angiomatosis

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