Clinical and genetic patterns of neurofibromatosis 1 and 2.

Ragge, Nicola

doi:10.1136/bjo.77.10.662

Cited by 45 publications

(15 citation statements)

References 102 publications

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“…NF2 is much rarer than NF1 , with a birth incidence of about 1 in 40 000 6, and the morbidity and mortality associated with it are greater, due to the intracranial and intraspinal tumours 1, 7. The major feature of NF2 is the presence of bilateral vestibular schwannomas (acoustic neuromas).…”

Section: Introductionmentioning

confidence: 99%

“…Ocular abnormalities associated with NF2 have been documented in other phacomatoses such as NF1 and tuberous sclerosis 7, 23, 24. Although they may present similar clinical and histological pictures (phenotype), involve genetic mutation and/or deletion of various tumour suppressor genes and result in loss of normal protein expression at the phacomatous lesions, the genotypes of each phacomatosis are completely different and the genes of each disease locate in different chromosomes 25–27.…”

Section: Introductionmentioning

confidence: 99%

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Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

Chan

Koch

Kaiser‐Kupfer

et al. 2002

The Journal of Pathology

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Individuals affected with the neurofibromatosis 2 (NF2) cancer predisposition syndrome develop specific ocular lesions. To determine whether these lesions result from altered NF2 gene expression, microdissection and PCR were used to investigate 40 ocular lesions from seven eyes of four NF2 patients for LOH, with markers that flank the NF2 gene on chromosome 22q. NF2 protein (merlin) expression was also evaluated in these lesions, using immunohistochemistry. Retinal hamartoma was observed in all seven eyes, including one with combined pigment epithelial and retinal hamartoma (CPERH). Retinal tufts were present in four eyes (three patients), retinal dysplasia in two eyes (two patients), optic nerve neurofibroma in one eye, iris naevoid hyperplasia in two eyes (two patients) and pseudophakia in all eyes. Markers were informative in three patients (six eyes from three unrelated families). One patient was non-informative due to prolonged decalcification. All retinal and optic nerve, but not iris lesions, demonstrated consistent LOH for the NF2 gene. Merlin was not expressed in the retina, optic nerve, or iris lesions. These results suggest that inactivation of the NF2 gene is associated with the formation of a variety of retinal and optic nerve lesions in NF2 patients.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

Chan

Koch

Kaiser‐Kupfer

et al. 2002

The Journal of Pathology

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“…tion that germ-cell damage caused by low * Point mutations: mutations in the NF-I doses of external ionizing radiation might gene (neurofibromatosis) and tumors of increase the risk of cancer and other genetic the central nervous system (72)(73)(74), rhab-diseases in the progeny of those exposed. The domyosarcoma (75), and leukemia findings for paternal occupational exposure, (72,76,77).…”

Section: Asociations With Inherited Genetic Disordersmentioning

confidence: 99%

Critical Windows of Exposure for Children's Health: Cancer in Human Epidemiological Studies and Neoplasms in Experimental Animal Models

Anderson¹,

Diwan²,

Fear³

et al. 2000

Environmental Health Perspectives

124

136

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In humans, cancer may be caused by genetics and environmental exposures; however, in the majority of instances the identification of the critical time window of exposure is problematic. The evidence for exposures occurring during the preconceptional period that have an association with childhood or adulthood cancers is equivocal. Agents definitely related to cancer in children, and adulthood if exposure occurs in utero, include: maternal exposure to ionizing radiation during pregnancy and childhood leukemia and certain other cancers, and maternal use of diethylstilbestrol during pregnancy and clear-cell adenocarcinoma of the vagina of their daughters. The list of environmental exposures that occur during the perinatal/postnatal period with potential to increase the risk of cancer is lengthening, but evidence available to date is inconsistent and inconclusive. In animal models, preconceptional carcinogenesis has been demonstrated for a variety of types of radiation and chemicals, with demonstrated sensitivity for all stages from fetal gonocytes to postmeiotic germ cells. Transplacental and neonatal carcinogenesis show marked ontogenetic stage specificity in some cases. Mechanistic factors include the number of cells at risk, the rate of cell division, the development of differentiated characteristics including the ability to activate and detoxify carcinogens, the presence of stem cells, and possibly others. Usefulness for human risk estimation would be strengthened by the study of these factors in more than one species, and by a focus on specific human risk issues.

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“…Other ocular abnormalities more rarely reported include optic disc gliomas, epiretinal membranes, conjunctival neurofibroma, retinal haemangioma, choroidal hamartomas, and optic nerve sheath meningiomas. Ocular symptoms are the initial manifestation of the disease in a minority of cases, but the mean age of onset of ocular symptoms is younger compared with extraocular symptoms [7][8][9].…”

Section: Discussionmentioning

confidence: 98%

“…The NF2 gene is highly penetrant, causing the development of acoustic neuromas in almost everyone (90%) carrying the gene. Approximately half the affected population report the occurrence of other nervous system tumors such as meningioma, gliomas, vestibular schwannoma, meningioma, ependymoma, and recognizing NF2-related skin tumors is important for early diagnosis, especially in pediatric patients [3][4][5][6]. Ocular findings are mainly represented by juvenile posterior subcapsular lens opacity [1].…”

Section: Introductionmentioning

confidence: 99%