J Korean Ophthalmol Soc.  2012 Aug;53(8):1200-1207. 10.3341/jkos.2012.53.8.1200.

Uncommon Ocular Manifestations of Neurofibromatosis: Case Report and Review

• Kim KJ
• Park SJ
• Lee KH
• Kang SM

• KMID: 2215969
• DOI: http://doi.org/10.3341/jkos.2012.53.8.1200

Abstract

PURPOSE
To report and review several cases of uncommon ocular manifestations in neurofibromatosis patients.
CASE SUMMARY
A 19-year-old woman diagnosed with type 2 neurofibromatosis visited our hospital with amblyopia of the right eye and mild visual disturbance of the left eye. Best corrected visual acuity was 20/250 in the right eye, 20/25 in the left eye and relative afferent pupillary defect in the right eye was observed. Fundus examination of both eyes showed papilledema. Magnetic resonance imaging showed schwannoma from the optic nerve to the optic chiasm. A 28-year-old woman diagnosed with type 2 neurofibromatosis visited our hospital with amblyopia of the right eye. Best corrected visual acuity was finger count in the right eye, 20/20 in the left eye and relative afferent pupillary defect in the right eye was observed. Fundus examination of the right eye showed a slightly elevated lesion at the macula, as well as dragged optic disc and retinal vessels to the macula. An 8-year-old girl diagnosed with type 1 neurofibromatosis visited our hospital with enophthalmos and strabismus of the left eye. On exophthalmometry, enophthalmos in the left eye was found; measurements were 15.0 mm in the right eye and 13.0 mm in the left eye. Three-dimensional computed tomography revealed sphenoidal hypoplasia and a left lateral orbital wall defect.
CONCLUSIONS
The authors of the present study report on neurofibromatosis patients who had an uncommon ocular manifestation. Neurofibromatosis can represent various ocular manifestations but reports of compressive optic neuropathy, dragged disc syndrome and sphenoidal hypoplasia are rare.

Keyword

Compressive optic neuropathy; Dragged disc syndrome; Neurofibromatosis; Retinal harmatoma; Sphenoidal hypoplasia

MeSH Terms

Adult
Amblyopia
Child
Enophthalmos
Eye
Female
Fingers
Humans
Magnetic Resonance Imaging
Neurilemmoma
Neurofibromatoses
Neurofibromatosis 1
Neurofibromatosis 2
Optic Chiasm
Optic Nerve
Optic Nerve Diseases
Orbit
Papilledema
Pupil Disorders
Retinal Vessels
Strabismus
Visual Acuity
Young Adult

Figure

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  Figure 1 Case 1. The fundus photographs of 19-year-old female with type 2 neurofibromatosis. Fundus examination shows papilledema in both eyes and peripapillary retinal hemorrhage in the right eye.

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  Figure 2 Case 1. Magnetic resonance imaging. Two Schwannomas were noted nearby optic nerve to optic chiasm, each measured about 27.0 × 12.0 mm, 23.0 × 10.0 mm in axial T1 image and axial T1 Gd enhance image. In T1 sagittal view, round mass is noted just inferior to the right optic nerve. In the T1 coronal Gd-enhanced image, round mass is also noted just inferior to the optic chiasm.

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  Figure 3 Case 2. The fundus photographs of 28-year-old female with type 2 neurofibromatosis. Fundus examination of the right eye shows abnormal temporal dragging of optic disc and retinal vessels and slightly elevated lesion at the macula and geographic chorioretinal atrophy at the posterior pole. Fundus examination of the left eye shows a normal fundus.

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  Figure 4 Case 2. The ultrasonography of the right eye shows a 4 mm-sized protruding mass into the vitreous cavity with high echogenicity in the lateral and superior views.

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  Figure 5 Case 3. The photographs of nine cardinal directions of gaze of 8-year-old female with type 2 neurofibromatosis. At the primary gaze, the enophthalmos and pseudoesotropia of the left eye is noted.

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  Figure 6 Case 3. Multi-Detector Computed Tomography. Facial CT scan illustrates the sphenoidal hypoplasia, left lateral orbital wall defect and enlarged middle cranial fossa. Three dimensional reconstructions of computed tomography images illustrate the enlargement of the left superior orbital fissure.

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