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Review
. 2016 May 13:10:851-60.
doi: 10.2147/OPTH.S102830. eCollection 2016.

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

Barmak Abdolrahimzadeh  1 , Domenica Carmen Piraino  2 , Giorgio Albanese  2 , Filippo Cruciani  2 , Siavash Rahimi  3
Affiliations
Review

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

Barmak Abdolrahimzadeh et al. Clin Ophthalmol. .

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.

Keywords: Lisch nodules; choroideal nodules; infrared reflectance; neurofibromatosis; ophthalmic; optical coherence tomography.

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Figures

Figure 1
Figure 1
Palpebral plexiform neurofibromatosis. Note: Reproduced with permission from Recupero SM, Abdolrahimzadeh S, Lepore G, et al. L’apparato oculare nelle sindromi neurocutanee. Rome, Italy: Verduci Editore; 2004. Copyright © 2004 Verduci Editore s.r.l.
Figure 2
Figure 2
Conjunctival involvement in neurofibromatosis type 1. Note: Reproduced with permission from Recupero SM, Abdolrahimzadeh S, Lepore G, et al. L’apparato oculare nelle sindromi neurocutanee. Rome, Italy: Verduci Editore; 2004. Copyright © 2004 Verduci Editore s.r.l.
Figure 3
Figure 3
Lisch nodules of the iris in neurofibromatosis type 1. Note: Right eye (A); left eye (B).
Figure 4
Figure 4
Chamber angle morphology and Lisch nodule of the iris surface shown with radial scan ultrasound biomicroscopy. Notes: The magnification is 5× and each division on the linear scale corresponds to 0.1 mm. Reproduced with permission from Recupero SM, Abdolrahimzadeh S, Lepore G, et al. L’apparato oculare nelle sindromi neurocutanee. Rome, Italy: Verduci Editore; 2004. Copyright © 2004 Verduci Editore s.r.l.
Figure 5
Figure 5
Near infrared reflectance images of the choroid showing bright patchy alterations typical of neurofibromatosis type 1. Note: Right eye (A); left eye (B).
Figure 6
Figure 6
Near infrared reflectance using spectral domain optical coherence tomography showing retinal microvessel alterations with a corkscrew appearance. Note: Magnification is 10× and the scale is 15:1.
Figure 7
Figure 7
Peripapillary retinal nerve fiber layer (RNFL) using spectral domain optical coherence tomography in a patient with neurofibromatosis type 1. Notes: Choroidal alterations of neurofibromatosis type 1 revealed with near infrared reflectance fundus images (A). Thinning of the peripapillary retinal nerve fiber layer is evident (B). Abbreviations: OCT, optical coherence tomography; ART, automatic real-time; IR, infrared reflectance; HS, Heidelberg Spectralis; TMP, temporal; SUP, superior; NAS, nasal; INF, inferior.
Figure 8
Figure 8
Combined hamartoma of the retina and retinal pigment epithelium in neurofibromatosis type 2. Notes: Magnification is 10× and the scale is 10:1. Reproduced with permission from Recupero SM, Abdolrahimzadeh S, Lepore G, et al. L’apparato oculare nelle sindromi neurocutanee. Rome, Italy: Verduci Editore; 2004. Copyright © 2004 Verduci Editore s.r.l.
Figure 9
Figure 9
Fluorescein angiography images of combined hamartoma of the retina and the retinal pigment epithelium. Notes: Early angiography phases show tortuous vessels due to the retraction of the internal limiting membrane and patchy areas of hypofluorescence due to hyperpigmentation. Magnification is 10× and the scale is 10:1. Reproduced with permission from Recupero SM, Abdolrahimzadeh S, Lepore G, et al. L’apparato oculare nelle sindromi neurocutanee. Rome, Italy: Verduci Editore; 2004. Copyright © 2004 Verduci Editore s.r.l.
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