Ocular Findings in Neurofibromatosis

Alkatan, Hind M.; Bakry, Sawsan S.; Alabduljabbar, Mohammad

doi:10.5772/intechopen.90021

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…Rarely, retinal astrocytic hamartomas may extend to the peripheral retina and cause devastating complications such as neovascular glaucoma and retinal detachment. 5 Fig. 3:…”

Section: Discussionmentioning

confidence: 99%

Screening saves sight: An unusual case of type-1 neurofibromatosis

Geethika,

Prasanth,

Arumugam

et al. 2023

IJOOO

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Neurofibromatosis (NF), described by von Recklinghausen in 1882, consists of at least two distinct disorders: NF1 (von Recklinghausen's or peripheral neurofibromatosis) and NF2, formerly known as 'central neurofibromatosis." The prevalence of NF is approximately 1 in 4,000, and of NF2, 1 in 50,000. Neurofibromatosis type 1 is a multisystemic neurocutaneous disorder with an autosomal dominant hereditary pattern. Ocular manifestations include plexiform neurofibroma of eyelid, Lisch nodules in iris, optic nerve glioma, glaucoma, sphenoid wing dysplasia. Retinal and choroidal involvement are encountered less frequently. Unusual ocular findings include multiple choroidal nevi, combined hamartoma, choroidal Schwannoma, choroidal melanoma and vaso proliferative retinal tumors.Here we report a case of an 18 year old girl diagnosed with neurofibromatosis type 1 who on routine ocular examination was found to have high myopia in both eyes and on fundus examination had a macula ‘on’ inferior retinal detachment with retinal hole in right eye. Inferior retinal detachment is rarely reported in neurofibromatosis type 1. This case emphasizes the importance of conducting ocular examination even in asymptomatic patients with neurofibromatosis, so that early detection and treatment can prevent vision loss secondary to retinal detachment.

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“…Rarely, retinal astrocytic hamartomas may extend to the peripheral retina and cause devastating complications such as neovascular glaucoma and retinal detachment. 5 Fig. 3:…”

Section: Discussionmentioning

confidence: 99%

Screening saves sight: An unusual case of type-1 neurofibromatosis

Geethika,

Prasanth,

Arumugam

et al. 2023

IJOOO

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“…Due to the age-dependent occurrence of various NF1 related complications, an ophthalmological multidisciplinary assessment every six months is imperative in children until the age of visual maturation, eventually coupled with MRI examinations. After visual maturation, the clinical and radiological assessment can be spaced depending on the patient’s needs in order to ensure an early changes diagnosis, supportive treatments and a prompt surgical approach when needed [ 95 ].…”

Section: Skull and Orbitmentioning

confidence: 99%

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Russo

Cascone

et al. 2021

Cancers

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Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.

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“…CNS gliomas can also affect the optic tracts and radiaions (423). Glaucoma has been reported in 1 in 300 patients with NF1, and can present as buphthalmos in children, with increased prevalence in patients with orbital and facial and anterior chamber involvement, or where fibrovascular thickening of the ciliary body or choroid is present (422,424,425). Retinal vascular tortuosity has been reported in 74% of patients with NF1, with microvascular abnormalities present in 31%.…”

Section: 107(b)(i) Neurofibromatosismentioning

confidence: 99%

The Impact of Optic Nerve Disorders on Sleep Wake

Stevenson

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Ocular Findings in Neurofibromatosis

Cited by 3 publications

References 17 publications

Screening saves sight: An unusual case of type-1 neurofibromatosis

Screening saves sight: An unusual case of type-1 neurofibromatosis

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

The Impact of Optic Nerve Disorders on Sleep Wake

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