Ophthalmic Manifestations in Patients With Neurofibromatosis

Bang Jaesoon; Seok Yang Hong; Hong Ahn Jae; Hoon Kook Kyoung; Chang Yoon-Hee

doi:10.3341/jkos.2008.49.11.1829

Journal List > J Korean Ophthalmol Soc > v.49(11) > 1008138

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Jaesoon, Hong, Jae, Kyoung, and Yoon-Hee: Ophthalmic Manifestations in Patients With Neurofibromatosis

Original Article

J Korean Ophthalmol Soc 2008;49(11):1829-1838.

Published online: 7 September 2008

DOI: https://doi.org/10.3341/jkos.2008.49.11.1829

Ophthalmic Manifestations in Patients With Neurofibromatosis

Bang Jaesoon, M.D., Seok Yang Hong, M.D., Hong Ahn Jae, M.D., Hoon Kook Kyoung, M.D., Chang Yoon-Hee, M.D.

Department of Ophthalmology, Ajou University School of Medicine, Suwon, Korea

Address reprint requests to Yoon Hee Chang, M.D. Department of Ophthalmology, Ajou University School of Medicine #San 5 Wonchon-dong, Youngtong-gu, Suwon 443-729 Korea Tel: 82-31-219-5260, Fax: 82-31-219-5259, E-mail: yhchang@ajou.ac.kr

Received 2 July 2008 Accepted 2 April 2008

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

To report the ophthalmic manifestations of neurofibromatosis in Korea.

Methods

Ophthalmologic examinations were performed from November 2001 to January 2008 for 153 consecutive patients who were diagnosed with neurofibromatosis according to the diagnostic criteria for neurofibromatosis. A retrospective analysis was performed according to the medical records of these 153 patients.

Results

Seventy seven out of the 153 patients were men, 76 were women and the mean age was 20.44±14.34 years old. One hundred twelve were neurofibromatosis type 1 and six were neurofibromatosis type 2. Remained thirty five were segmental neurofibromatosis type 1. Ophthalmic manifestations of the neurofibromatosis type 1 were Lisch nodule (52.68%), high myopia (14.29%), plexiform neurofibroma in the orbit (4.46%), café au lait spots (4.46%) and optic glioma (3.58%). In the neurofibromatosis type 2, epiretinal membrane (33.33%) showed highest incidence and posterior subcapsular opacity (16.67%), Lisch nodule (16.67%), optic disc edema (16.67%), and optic nerve glioma (16.67%) were also noted. Lisch nodule (25.71%) was the most common ophthalmic finding in segmental neurofibromatosis type 1.

Conclusions

Lisch nodule, which was the most common manifestation of the neurofibromatosis type 1, was less manifested in our cases compared to the previous reports of western countries. In the neurofibromatosis type 2, epiretinal membrane and posterior subcapsular cataract showed higher incidence than those of other types of neurofibromatosis.

Keywords: Lisch nodule, Neurofibromatosis, Ophthalmic manifestation

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Figure 1.

Distribution of age in neurofibromatosis;^* Neurofibromatosis^† Segmental neurofibromatosis.

Firure 2. The photograph shows a large café au lait spots and freckles.

Figure 3.

The photograph shows periorbital subcutaneous neurofibromas.

Figure 4.

Anterior segment photograph shows multiple Lisch nodules on iris.

Figure 5.

Unilateral optic glioma (arrow) in an individual affected by neurofibromatosis 1.

Figure 6.

The MRI shows a plexiform neurofibroma (arrow) of the left orbit.

Figure 7.

The photograph shows a elevated conjunctival neurofibroma.

Table 1.

Clinical diagnostic criteria for NF^*1

1. Six or more café au lait macules (>0.5 cm in children or >1.5 cm in adults)

2. Two or more cutaneous or subcutaneous neurofibromas or one plexiform neurofibroma

3. Axillary or groin freckling

4. Optic pathway glioma

5. Two or more Lisch nodules (iris harmatomas seen on slit lamp examination)

6. Bony dysplasia (sphenoid wing dysplasia, bowing of long bone±pseudoarthrosis)

7. First-degree relative with NF1

Two or more of the above criteria are required for diagnosis

^* Neurofibromatosis.

Table 2.

Clinical diagnostic criteria for NF*2

1.	Bilateral vestibular schwanomas
2.	First-degree family relative with NF2 and unilateral vestibular schwanoma or any two of: meningioma, schwanoma, glioma, neurofibroma, PSLO^†
3.	Unilateral vestibular schwanoma and any two of: meningioma, schwanoma, glioma, neurofibroma, PSLO^†
4.	Multiple meningiomas (two or more) and unilateral vestibular schwanoma or any two of: glioma, schwanoma, neurofibroma, cataract
	*NF^2 may be diagnosed when one of the criteria is present**

^* Neurofibromatosis

^† posterior subcapsular lenticular opacities.

Table 3.

Characteristics of the group

		NF^*1	NF^*2	Segmental NF^*1
Sex	Male	54	4	19
(numbers)	Female	58	2	16
Age (years)	2	21.79±13.57 2	26.00±8.69	15.20±16.36

^* Neurofibromatosis.

Table 4.

Clinical manifestations of neurofibromatosis

	NF^*1 (%)	NF^*2 (%)	Segmental NF^*1 (%)
Café-au-lait spots	92.86	16.67	60.00
Cutaneous neurofibroma	69.64	50.00	14.29
Skin-fold freckling	54.46	0.00	0.00
Lisch nodule	52.68	16.67	25.71
Optic glioma	3.58	16.67	0.00
Skeletal dysplasia	3.58	0.00	0.00
Plexiform Neurofibroma	25.90	83.33	2.86
Schwanoma	3.58	66.67	0.00
Meningioma	1.79	16.67	0.00
Disc herniation	13.39	0.00	2.86
Scoliosis	5.36	0.00	5.71
Arachnoid cyst	1.79	0.00	5.71
Other CNS anomalies Large ventricle, Moyam	moya disease,	Multiple nodules
Demyelinating lesions, Granuloma, Dura ectasi	Venous aneurysm, ia, Astrocytoma

^* Neurofibromatosis.

Table 5.

Ophthalmic manifestations of neurofibromatosis

		NF^*1 (%)	NF^*2 (%)	Segmental NF^*1 (%)
Orbit	Plexiform neurofibroma	4.46	0.00	0.00
Lid	Café au lait spots	4.46	0.00	2.86
	Lagophthalmos/Drooping	0.00/0.90	16.67/0.00	2.86
	Entropion	0.90	0.00	0.00
	Plexiform neurofibroma	2.68	0.00	0.00
Conjunctiva	Neurofibroma	2.68	0.00	0.00
Cornea	Corneal opacity	1.79	0.00	0.00
	Corneal mass	0.00	0.00	2.86
	New vessels on cornea	1.79	0.00	0.00
Pupil	Lisch nodule	52.68	16.67	25.71
Lens	Anterior polar cataract	0.90	0.00	0.00
	Cortical opacity	0.90	0.00	0.00
	PSC^†	0.00	16.67	0.00
Fundus	Retinal hole	3.58	0.00	2.86
	Chorioretinal atrophy	3.58	0.00	0.00
	Lattice degeneration	3.58	0.00	2.86
	Epiretinal membrane	0.90	33.33	2.86
Disc anomaly	High C/D^‡ ratio	2.68	0.00	5.71
	Disc atrophy	1.79	0.00	5.71
	Disc edema	0.00	16.67	0.00
	Optic glioma	3.58	16.67	0.00
EOM^§	Exotropia	2.68	0.00	0.00
	Exophoria	2.68	0.00	0.00
	Esotropia	0.90	0.00	0.00
High myopia		13.91	12.50	12.50

^* Neurofibromatosis

^† Posterior subcapsular cataract

^‡ Cup to disc ratio

^§ Extraocular muscle.

Table 6.

Correlations of ophthalmic manifestations and demographic variables, systemic manifestations

	NF^*1 ( p value)	NF^*2 ( p value)	Segmental NF^*1 ( p value)
Age	0.150 (0.119)	-0.295 (0.570)	0.638 (0.000)
Sex	-0.178 (0.064)	-0.221 (0.674)	0.063 (0.719)
Family history^†	0.153 (0.112)	0.070 (0.895)	-0.126 (0.471)
Systemic manifestations^‡	0.291 (0.002)	0.768 (0.074)	-0.530 (0.764)

^* Neurofibromatosis

^† Family history of Neurofibromatosis

^‡ Systemic manifestations of Neurofibromatosis.

Table 7.

Distributions of refractory error

Diopter	NF^*1 (%)	NF^*2 (%)	Segmental NF^*1 (%)
+6.00<	0.00	0.00	4.17
+3.00< and ≤+6.00	0.00	0.00	0.00
0.00< and ≤+3.00	21.19	12.50	31.25
0.00≤ and <-3.00	53.64	62.50	52.08
-3.00≤ and <-6.00	11.26	12.50	0.00
-6.00≤	13.91	12.50	12.50

^* Neurofibromatosis.

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