• Users Online: 21282
  • Home
  • Print this page
  • Email this page

   Table of Contents      
Year : 1992  |  Volume : 40  |  Issue : 1  |  Page : 2-4

Involvement of the eye and orbit in neurofibromatosis type 1

Department of Ophthalmology, Goa Medical College, Panaji-Goa, Pin 403 001, India

Correspondence Address:
C H Gaonker
Department of Ophthalmology, Goa Medical College, Panaji-Goa, Pin 403 001
Login to access the Email id

Source of Support: None, Conflict of Interest: None

PMID: 1464449

Rights and PermissionsRights and Permissions

11 individuals were diagnosed to have neurofibromatosis type 1 and were examined for evidence of any ophthalmic lesions. Lisch nodules were the commonest manifestation of the disease and were present in 73% of all the patients (88% of those aged 16 years or more). 55% of the cases showed presence of neurofibroma on the lids. Other findings were optic glioma, unilateral sphenoid dysplasia with enlarged orbit, medullated nerve fibers and prominent corneal nerves with an incidence of 9% each.

How to cite this article:
Gaonker C H, Mukherjee A K, Pokle M. Involvement of the eye and orbit in neurofibromatosis type 1. Indian J Ophthalmol 1992;40:2-4

How to cite this URL:
Gaonker C H, Mukherjee A K, Pokle M. Involvement of the eye and orbit in neurofibromatosis type 1. Indian J Ophthalmol [serial online] 1992 [cited 2024 Feb 24];40:2-4. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?1992/40/1/2/24418

Click here to view

Click here to view

Click here to view

Click here to view

Click here to view

Click here to view

  Introduction Top

Neurofibromatosis (NF) has been reported from all parts of the world and has no racial or sexual preponderance [1]. As many as seven forms of the disease have been described [2]. However, the knowledge at the present time is sufficient to clearly distinguish neurofibromatosis type 1 (previously known as Von Recklinghausen or peripheral neurofibromatosis) and type 2 (bilateral acoustic or central neurofibromatosis); and further subclassifica­tion is unjustified by the inadequate evidence [3]. Neurofibromatosis type 1 (NF1) is the commonest form accounting for over 90% of all the cases [4]; with a prevalence of around 1/4950 (20,10 [5]) of population [5]. Inheritance is autosomal dominant and approximately 50% of cases represent new mutations. The diag­nostic criteria adopted by the 1987 National Institute of Health (NIH) Consensus Development conference on neurofibromatosis are shown in [Table - 1] [3]. The major defining features of NF1 are cafe au lait spots, peripheral neurofibromas and Lisch nodules.

Lisch nodules (Iris hamartomas) described in the previous literature with no particular significance have received special importance in the recent reports [3],[6],[7],[8]. These are lightly pigmented, gelatin like lesions resembling nevi found on all parts of the surface of the iris. They are virtually pathog­nomonic of the disease and over the last few years, they have acquired a definitive role to establish or exclude the diagnosis of NF1 [3],[7]. The involvement of the other tissues of the eye and the orbit is common and scarcely any tissue or structure within or around the eye, except the lens seems immune [9],[10]. The present communication deals with ophthalmic evalua­tion of 11 cases of NF1, with a special emphasis on the incidence of Lisch nodules. This, to our knowledge is one of the rarest studies on NF1, carried out in the Indian population in recent years.

  Material and methods Top

The diagnosis of NF1 was based upon the criteria shown in [Table - 1]. The routine ophthalmic assessment included

1 Examination of the ocular adnexa and motility

2 Measurement of visual acuity

3 Slit-lamp examination of the anterior segment of the eye

4 Examination of the fundus with direct and indirect ophthalmoscope.

5 Indentation tonometry

6 Gonioscopy

7 Retinoscopy and

8 X-ray orbit - Caldwell view and optic foramina views.

  Observations Top

1 Of the 11 patients, 8 were males and 3 were females, ranging in age from 9 to 35 years. All of them belonged to the Indian race.

2 [Table - 2] depicts the incidence of various ophthalmic findings.

Lisch nodules were the commonest in incidence, seen in 8 of 11 patients (73%) and were bilateral in all 8 (100%). They were present in 7 of the 8 patients above the age of 16 years (88%). In most cases they could be appreciated with the naked eye, and their presence was confirmed by slit-lamp ex­amination. They appeared as dome shaped lesions with a smooth outline, light brown in colour and varying in size and number (2 to 32)

3 4 of the 6 patients with neurofibromas of the lids showed fibroma molluscum whereas the remaining 2 had plexiform neurofibromas presenting with ptosis. All cases showed involvement of the upper lid unilaterally. In one patient the plexiform neurofibroma was extending into the temporal region and was associated with a palpable bony defect in the temporal fossa.

4 2 patients presented with unilateral proptosis. In one of them, the proptosis was reducible and pulsatile in nature and was associated with neurofibroma of the upper lid. X-ray revealed the absence of greater wing of the sphenoid with enlargement of the orbit on the affected side. The other patient showed enlarged optic foramina radiologically and was proved to be a case of glioma of the optic nerve.

  Discussion Top

Lisch nodules are the commonest ophthalmic manifes­tation of NF1 [6],[7] They begin to develop in early childhood and are present in over 95 % adults with the disease [7]. Histologically they are melanocytic hamartomas containing various amount of pigment [11] and therefore are presumed to be of neural crest origin embryonically, as are the other manifestations of NF1- cafe au lait spots and cutaneous neurofibromas [7]. Their incidence, though on the lower side in this series is still comparable with the previous reports [Table - 3].

Neurofibromas involving the upper lid present with ptosis and the characteristic S-shaped contour of the upper lid forms a distinctive and diagnostically very suggestive picture of NF1. Its incidence of 55% in the present series is relatively higher than the report of Huson et al who detected their presence in 16% of the cases [7]. Plexiform neurofibromas are known to be associated with bony deficiencies in­volving the temporal region, occipital bone, sphenoid with absence of orbital roof, and part of sella turcica as well as the general enlargement of the orbit [10]. These deformities may be present as a congenital defect or they may arise as a result of erosion by the tumour [10]. The pulsatile proptosis represents the transmitted cerebral pulsations caused by the her­niation of brain tissue into the orbit through such defects and is differentiated from the other causes of pulsatile proptosis especially carotico-cavernous fistula by the absence of the characteristic bruit and the prominent conjunctival vessels [1].[10],[12],[13]

Approximately 10 to 20% of the gliomas arising in the optic nerve and chiasma are known to be associated with NF1 [10],[14]. In the series of Holt, optic gliomas were found in 23% of children with NF [15]. Congenital medullation of the nerve fibres and prominent corneal nerves have also been described in NF [9].[16],[17]

The absence of choroidal hamartomas and glaucoma in this report is striking. Choroidal hamartomas were reported to be present in 51% of the patients by Lewis and Riccardi [6]; and in 35% of the patients by Huson et al [7]. As many as 50% of cases of NF with involvement of the lids and face exhibit glaucoma on tl -e affected sides. These eyes with glaucoma show distinctive gonioscopic findings [18]. No abnor­malities were detected in our patients on gonioscopic examination. This may be attributed to the compara­tively less number of patients comprising this study. The small size of the sample also explains the relatively low incidence of Lisch nodules in this series [Table - 3]. In conclusion Lisch nodules are undoubtedly the commonest ocular manifestation of NF1; and the involvement of the eye and the orbit in the disease shows no differences in the Indian population[19].

  References Top

Victor Zion: Phakomatosis. In Duane TD ed. Clinical Ophthalmology. Philadelphia Harper and Row, Vol,5:Ch.36(1-3);1983.  Back to cited text no. 1
Riccardi VM: Neurofibromatosis : clinical heterogeneity. Curr Prob Cancer: 7(2):1-34. 1984.  Back to cited text no. 2
National Institutes of Health Consensus Development Conference. Neurofibromatosis Conference Statement. Arch. Neurol 45:575-8: 1988.  Back to cited text no. 3
Husen SM: Recent developments in the diagnosis and management of neurofibromatosis, Arch Dis Child: 64:745-9: 1989.  Back to cited text no. 4
Huson SM: Harper PS. Compton DAS: Von Recklinghausen neurofibromatosis: a clinical and population study in south east Wales. Brain : 111:1355-81: 1988.  Back to cited text no. 5
Lewis RA, Riccardi VM: Von Recklinghausen neurofibromatosis. In­cidence of iris hamartoma, Ophthalmology: 88:348-54: 19-81: 1988.  Back to cited text no. 6
Lewis RA. Riccardi VM; Von Recklinghausen neurofibromatosis. In­cidence of iris hamartoma, Ophthalmology: 88:348-54; 1981.  Back to cited text no. 7
Huson SM, Jones D, Beck L: Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmal : 71: 235-8: 1987,  Back to cited text no. 8
Boltshauser E, flueler U. Kilchhofer A : Iris hamartomas as diagnostic criterion in neurofibromatosis. Ann Neurol : 18: 415-6: 1985.  Back to cited text no. 9
Asdourian GK. Lewis RA: The phakomatosis. In: Peyman GA, Sanders DR, Goldberg MF ed Principles and Practice of Ophthalmology Philadelphia: W.B. Saunders Company. Vol 2: 1199-1201: 1980.  Back to cited text no. 10
Walsh F, Hoyt W: Clinical Neurophthalmology. Baltimore, Williams and Wilkins, Vol 3, 1943-50: 1969.  Back to cited text no. 11
Perry HD, Font RL: Iris nodules in von Recklinghausen's neurofibromatosis. Electron microscopic confirmation of their melanocytic origin. Arch Ophthalmol: 100:1635-40: 1982.  Back to cited text no. 12
Mortada A: Pulsating exophthalmos with orbital neurofibromatosis, Am J Oplithalmol :64:462;1967.  Back to cited text no. 13
Sivaramasubrahmanyam P: Pulsating exophthalmos due to neurofibromatosis. Br J Ophthalmol. 29:106:1965.  Back to cited text no. 14
Saran N Winter FG: Bilateral gliomas of the optic discs, associated with neurofibromatosis. Am J Ophthalmol 64:607:1967.  Back to cited text no. 15
Holt JF: Neurofibromatosis in, children, A J R: 130:615:1978.  Back to cited text no. 16
Duke-Elder S: Diseases of the retina, System of Ophthalmology. St.Louis, The C V Moshy Company, vol X, 764: 1967.  Back to cited text no. 17
Kolke MR Barley AE: Bilateral plexiform neuromata of the conjunctiva and medullated corneal nerves, Am. J Ophthalmol: 23:170;1940.  Back to cited text no. 18
Grant WNM. Walton DS. Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. Arch Ophthalmol :79:127:1968  Back to cited text no. 19


  [Figure - 1], [Figure - 2], [Figure - 3]

  [Table - 1], [Table - 2], [Table - 3]

This article has been cited by
1 Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients
Friedrich, R.E., Stelljes, C., Hagel, C., Giese, M., Scheuer, H.A.
Anticancer Research. 2010; 30(5): 1751-1764
2 Late-onset unilateral primary developmental glaucoma associated with iridotrabecular dysgenesis, congenital ectropion uveae thickened corneal nerves: A new neural crest syndrome?
Mandal, A.K.
Ophthalmic Surgery and Lasers. 1999; 30(7): 567-570
3 Soft Tissue Tumours of Eyelid
Abidi, U., Maheshwari, V., Tyagi, N., Tyagi, S.P., Gogi, R.
Indian Journal of Pathology and Microbiology. 1997; 40(4): 515-519


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

  In this article
Material and methods
Article Figures
Article Tables

 Article Access Statistics
    PDF Downloaded3    
    Comments [Add]    
    Cited by others 3    

Recommend this journal