Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography

Abstract

Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital–facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation. Near infrared reflectance has greatly contributed to enhancing our knowledge on choroidal alterations in NF1. Indeed, some authors have proposed to include these among the diagnostic criteria. Optical coherence tomography has given new insight on retinal alterations and is a noninvasive tool in the management of optic nerve gliomas in children. Ocular manifestations in NF type 2 can range from early-onset cataracts in up to 80% of cases to optic nerve hamartomas and combined pigment epithelial and retinal hamartomas.

Case Report: Chemotherapy Indication in a Case of Neurofibromatosis Type 1 Presenting Optic Pathway Glioma: A One-Year Clinical Case Study Using Differential Tractography Approach

“…However, no significant differences were found in their diagnostic performance (Tafreshi et al, 2009). New special diagnostic instruments such as optical coherence tomography (OCT) and ganglion cell layer-inner plexiform layer (GCL-IPL) thickness have provided new FOV that can be used to investigate the ophthalmic indications of NF1 patients with optic nerve glioma (Gu et al, 2014;Abdolrahimzadeh et al, 2016). As previously described, our case is a young woman with optic radiation PA, not optic nerve glioma.…”

Clinical presentation of neurofibromatosis in indigenous black Africans: Evidence for multidisciplinary team approach to diagnosis and management with emphasis on Ophthalmological perspective.

“…We documented full cataract in two cases, however, it is possible that these were incidental. Posterior subcapsular cataract has been documented in association with NF type 2, and is an important diagnostic criterion in the presence of a unilateral acoustic neuroma 40,41 . We also had a case of conjunctival neurofibroma, which is rare 40 .…”

Retinal vasoproliferative tumour-induced intractable neovascular glaucoma in a child with neurofibromatosis type 1

“…1 The role of the ophthalmologist is vital in view of NF1's ocular manifestations, which include palpebral neurofibromas, Lisch nodules of the iris, glaucoma, optic nerve glioma, strabismus and proptosis. [2][3][4] RVPT is a proliferative vascular tumour characterised by red to pink or dirty yellow vascular retinal mass lesions seen in the inferior or inferotemporal quadrant associated with feeder vessels, retinal telangiectasia, subretinal exudates, macular oedema and epiretinal membrane. [5][6][7] RVPTs can be primary and idiopathic or secondary to ocular and systemic anomalies.…”