|Year : 1981 | Volume
| Issue : 2 | Page : 117-120
Vasudev Anand Rao, GC Sood, R Raman
Jawahar Lal Institute of Post graduate Medical Education and Research, Pondicherry, India
Vasudev Anand Rao
Jawahar Lal Institute of Post graduate Medical Education and Research, Pondicherry
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Rao VA, Sood G C, Raman R. Ocular neurofibromatosis. Indian J Ophthalmol 1981;29:117-20
Neurofibromatosis or Von Recklinghausen's disease is one of the so called phakomatoses. It is a systemic condition characterised by diffuse proliferation of the Schwann cells of the peripheral nerves. The basic abnormality consists of a maldevelopment of neuroectodermal tissue often accompanied by evidence of mesodermal dysplasia. Abnormalities present may involve skin, soft tissue, nervous system, bones and eyes,.
The purpose of the present communication is to analyse 5 cases of ocular neurofibromatosis and highlight some unusual features.
| Case report|| |
Summary of the important features in these 5 cases is given in [Table - 1] and [Figure - 1],[Figure - 2],[Figure - 3],[Figure - 4],[Figure - 5],[Figure - 6].
| Discussions|| |
Neurofibromatosis is a disease of congenital origin which manifests most often during the first decade of life. All our cases presented in the 2nd decade. Both the sexes were more or less equally affected (3 females and males).
Ocular involvement is usually associated with generalised Von Recklinghausen's disease. Multiple neurofibromas and cafe au lait spots were seen in 3 and 4 cases respectively. According to Allende ocular involvement in neurofibromatosis in order of frequency is as follows: lids, optic nerve, orbit, retina, iris, cornea, tarsal and bulbar conjunctiva.
Homolateral facial hemihypertrophy was present in one case. According to Reese facial hemihypertrophy may be associated with glaucoma. Our case had however a high myopia-18 D.
Eyelids: In all 5 cases there was diffuse thickening and hypertrophy of the skin due to plexiform neurofibroma. There was also mechanical ptosis. In one case- the adjacent skin of the temporal region was also affected. Swelling of the lids is usually present at birth or it may develop in early childhood. Chaddah and Ahluwalia reported swelling of lids in all their cases.
Eyeball: One case had pulsating exophthalmos: it was synchronous with carotid pulse. No bruit was heard. Bruwer and Kier land and Agarwal et al have also described pulsating exopthalmos in cases of neurofibromatosis. The cause of the pulsating exopthalmos is a deficiency of the bony structures at the apex of the orbit with resulting encroachment by the temporal lobe of the brain and its covering on the orbital contents. The pulsation of the brain is then transmitted to the structures in the orbit. In our case X-rays showed right orbit to be enlarged and destruction of walls of orbit and sphenoidal wings. Another case had exopthalmos which was not pulsating. This may be due to neurofibromatous tissue in the orbit, glioma or meningioma of the optic nerve sheath and brain herniation through the bone defect.
One case bad enophthalmos. This is a rare finding in cases of neurofibromatosis. Burrows reported a case of pulsating enophthalmos and a large ipsilateral defect of the sphenoid bone. In our case enophthalmos was not pulsating and x-ray orbits were normal. In the case reported by Savino et al B. scan ultrasonography showed an abnormality of the retro-orbital fat pad which appeared less dense and smaller than in the normal orbit. According to them this finding may account for the enophthalmos.
Buphthalmos : Is usually associated with ipsilateral neurofibromatosis of face, eyelids, and orbit. Ingalis reported an incidence of 20% buphthalmos in cases of neurofibroma tosis. In the present series too the incidence was similar only one case out of 5 had buphthalmos. The vertical and horizontal corneal diameters were 14 and 15 mm respectively. The intra-ocular pressure was 35.6 mm Schiotz and there was glaucomatous cupping. Gonioscopy showed a whitish tissue in the region of the trabecular meshwork. Grant and Walton have also described similar findings. Other mechanisms for obstruction of aqueous outflow in such cases can be closure of the angle due to neurofibroma thickening of ciliary body and choroid, secondary fibrovascularisation and synechial closure of the angle and failure of normal development of the angle structures or absence of Schlemm's canal.
Uvea: One case had multiple whitish nodules on the iris associated with melanosis of iris. Chaddah and Ahluwalia, Nordmann and Brini have also reported such nodules. These nodules consist of proliferated stromal melanocytes.
Empty Sella syndrome : Is a specific gross anatomical variation where an incomplete diaphragm sellae encompassed a large opening above the flattened hypophysis which lined the sella floor and incompletely filled the sellar cavity, hence the impression of empty sella.
This may be idiopathic or secondary. Case No. I had idiopathic empty sella syndrome because X-ray skull showed a ballooned pituitary fossa, with absence of clinical or radiological evidence of raised intracranial pressure. There was also no evidence of pituitary or thyroid dysfunction and there was no history of operation or irridation. Agarwal et al, also described two cases of neurofibromatosis with empty sella where pneumoencephalography revealed empty sellar space filled with air. Pituitary is involved very rarely in such cases.
| Summary|| |
Five cases of ocular neurofibromatosis are reported. The important features included plexiform neurofibroma of lids with mechanical ptosis, pulsating and non pulsating exophthalmos, enophalmos, buphthalmos and iris nodules.
| References|| |
Allende, F.P., 1945, Arch. Ophthalmol. 33:110.
Chaddah, M.R. and Ahluwalia, B.K., 1968, Orient. Arch. Ophthalmol. 6:135.
Reese, A.B., 1976, Tumors of the Eye, 3rd Edn. p. 156-164 Harper and Row, New York.
Bruwer, A.J. and Kierland, R.R., 1955, Arch. of Ophthalmol. 53:2.
Agarwal, R.L., Agarwal, R.K., Sbarma N.C. and Nagar, C.K., 1980, Ind. J. of Ophthalmol. 28:23.
Savino, P.J., Glasser J.S. and Luxenberg M.N., 1977, Brit. J. Ophthalmol 61:483.
Barrows, E.H., 1963, Brit. J. Radiol. 36:549.
Ingalis, R.G., 1953, Tumors of the orbit and allied pseudo tumor. Charles C. Thomas, Spring Field 109:117.
Grant, M.W., and Walten, D.S., 1968, Arch. Ophthalmol. 79:127.
Nordmann, J. and Brini, A., 1970, Brit. J. Ophthalmol. 54:641.
Walsh, F.B , 1969, Clinical neurophthalmology, 3rd edn. William and Wilkins Co, Baltimore.
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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]
[Table - 1]