massive a congenitally deformedeye - british journal of...

British Journal of Ophthalmology, 1982, 66, 583-588

Massive ocular astrocytoma in acongenitally deformed eyeJ. REIMER WOLTER,' 3 ALMON L. SCHUT,2 AND KATERINA DOROVINI-ZIS3

From the Departments of 'Ophthalmology and 3Pathology ofthe University ofMichigan Medical Center, andfrom the 2Bronson Methodist Hospital, Kalamazoo, USA

SUMMARY A large retinal astrocytoma filled all of the posterior chamber of the congenitally blindand deformed eye of a 26-year-old male. History, clinical findings, and pathological study withspecial stains allowed for an unusually complete presentation of this rare intraocular neoplasm.

Astrocytomas of the inner eye are rare neuroecto-dermal hamartomas.'I They may originate in theretina3 or in the optic nerve head.4 Their advancedstages are usually found in the laboratory in eyes thatwere removed because of pain and blindness,3 but intheir early stages they may present to the clinicianwith all the signs of active intraocular tumour growth'and may be clinically indistinguishable from retino-blastoma.2 Like other extracerebral gliomas in thehead region intraocular astrocytomas typically arebenign.5 Gliomatous tumours in the eye present in abroad and continuous spectrum of space-takingprocesses showing excessive reactive gliosis on oneend and active neoplastic glial growth on the other.3The reactive tumours are also known as massivegliosis and are relatively common. True intraoculargliomas are exceedingly rare. An attempt to findfeatures that would allow for an exact separation ofmassive gliosis from the neoplastic types in a largerseries has failed.3 All these glial tumours occur inpatients who show no signs of generalised phakoma-toses, of course.

It is the purpose of this paper to present the case ofa patient with an astrocytoma that completely filled acongenitally deformed eye and extended into theoptic nerve head, and who had a slight congenitaldefect in the other eye.

Case report

This 26-year-old white male was first seen in March1978 with a blind, painful, and unsightly left eye. Thefamily history was negative, but it may be of interestthat the patient was the fifth of5 living siblings and thatCorrespondence to J. Reimer Wolter, MD, Department ofOphthalmology, University of Michigan Medical Center, AnnArbor, Michigan 48109. USA.

one sister died at the age of I month, while anothersister was stillborn. The patient was born of a nornalpregnancy, at full term by a normal delivery, and wasnot in an incubator. He is of good general health andstated that he had never been sick. He has no signs ofneurofibromatosis or other generalised disease. Theleft eye was recognised as poorly developed at birthand it never had any vision. Throughout his childhoodit did not bother the patient, but within the last 2 yearsit became painful and ugly.

Clinical examination revealed a vision of 20/20 andJ 0 with a -4.00+050 axis 1800 in the right eye. Thiseye had a normal visual field. Fundus examination ofthe right eye revealed a relatively large temporalconus of the disc, with an anomalous choroidal bloodvessel crossing the region of the conus. The left eyewas blind. It was irritable and also exhibited bandkeratopathy as well as dense corneal scarring, whichprevented a view into deeper parts of the eye; itappeared to be small. In 1967 the eye had a lowintraocular pressure. In 1976 an irregular staphylomawas noticed on the temporal side between 2 and 6o'clock. At that time, the intraocular pressure was28-0 mmHg by applanation tonometry. There wasdistinct rubeosis iridis. After the situation had beendiscussed with the patient he asked to have the eyeremoved. This was done on 22 March 1978 undergeneral anaesthesia.The eye measured 22x 19x 19 mm. The cornea was

white and scar-like. There was an extensive staphy-loma, with bluish discolouration of the sclera.Transillumination with the egg candler6 showed theeye to be filled with a solid mass. When the eyeballwas opened in a horizontal plane, the anteriorchamber could be recognised and was partly filledwith whitish exudate. The iris was continuous, and itsfront surface had a normal appearance. A white

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J. Reimer Wolter, Almon L. Schut, and Katerina Dorovini-Zis

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Fig. I Gross view ofthe eye aftersectioning. The anterior chamber(A)filled with a yellowishsubstance. The iris is visible. Theinner eye behind the iris is totally _filled with a white tumour (T).(x2*8).

tumour of firm consistency filled the remainder of theeye (Fig. 1). In the place of the optic nerve theposterior sclera had a hole.

Microscopic study of paraffin sections (Fig. 2)revealed a continuous corneal epithelium of some-

S what irregular thickness, with a dense fibrous pannuscontaining only a few patent blood vessels. Bowman'smembrane was seen under the pannus in partlycalcified fragments. The corneal stroma showed much

N, scarring and some neovascularisation. The anteriorchamber was shallow, and it was partly filled withserous exudate containing cholesterol crystal spacesand many histiocytes. Anterior peripheral synechiaeclosed the angle completely. The iris was atrophic andshowed distinct neovascularisation, with relativelylarge vessels. The pupil was not recognised. Astaphyloma was seen in the region of the ciliary bodyon one side (Fig. 2); the lens was pushed to theopposite side and was calcified. Tumour tissue filledthe remainder of the inner eye. Parts of atrophic anddistorted retina were seen in their normal place, but

0 most ofthe retina was absent. The pigment epitheliumhad survived in some parts, but most of this layer hadalso degenerated and had formed a thin layer of boneoverlying remnants of the choroid. The choroid wasnot directly involved with the tumour. Mononuclearcell infiltration was recognised, both diffusely and in afocal arrangement in the choroid. The optic nerve

Fig. 2 Cross-section ofthe eyeshowingexudate in the head was not seen, but the tumour extended throughanterior chamber (A), the lens (L) with much ofthe lens the hole cut durng enucleation in the sclera in thesubstance broken out because ofcalcification, thestaphyloma on the right (S), the tumourfilling all ofthe inner place of the optic nerve (Fig. 2). The sclera waseye behind the iris, and the hole in the sclera posteriorly otherwise normal, though it had unusually large, long(between arrows). The inferior oblique insertion is seen on posterior ciliary nerves.the sclera (0). (Paraffin section, Hand E stain, x3- 4). The tumour filling most of the inner eye had a

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slightly irregular appearance due to a poorlydeveloped lobulated growth pattern. This was bestvisible at lower magnifications (Fig. 2). Higher powershowed it to be composed of intertwining bundles ofelongated bipolar cells with small and oval nuclei. Allthe cells appeared rather inactive, and no mitoseswere found. Blood vessels were seen all through thetumour in a fairly regular distribution and their wallsshowed much hyalinisation (Fig. 3). Small areas ofnecrosis were found, and these showed early stageswith necrotic preservation of portions of fibre bundlesas well as later stages with hyalinisation and calcifica-tion. Phosphotungstic acid haematoxylin (PTAH)stain revealed fine and coarse neuroglial fibres in thetumour cells. Occasionally the cells were arrangedradially around a small lumen to form rosettes (Fig.4). Rosenthal fibres similar to those observed inpilocytic astrocytomas of the central nervous systemwere seen in places (Fig. 5). Reticulum stain showedonly few reticulum fibres, which were associated withthe blood vessels. The cytoplasm and the processes ofthe tumour cells failed to stain red with the Gomoritrichrome stain. Electron microscopic examination of

Fig. 3 Tumour cells are arrangedin interlacing bundles. They arequite uniform and exhibit ovoid orelongated nuclei. Numerous bloodvessels with hyalinised walls areseen. (Thin paraffin section, H andEstain, x300).

the formalin-fixed tissues showed numerous intra-cytoplasmic filaments. Unfortunately the preser-vation was not sufficient to allow for furtheridentification of the cells and their filaments.However, the observations with special stains andlight microscopy were sufficient to make the diagnosisof a retinal astrocytoma in this case.Study of the posterior aspect of the enucleated eye

with the scleral hole resulted in the impression thatthe astrocytoma was not completely removed. Thuson 15 May 1978 conjunctiva and Tenon's capsulewere opened, the mesh implant was temporarilyremoved, and the optic nerve head was excised alongwith a 7 mm piece of the optic nerve stump. Histolo-gical study revealed additional astrocytoma on thelamina cribrosa, but the tumour had not extendedinto the nerve. The optic nerve was atrophic. Thecentral retinal artery exhibited advanced narrowingdue to an onion-layer-like proliferation of theendothelium (Fig. 6). The central retinal vein waslarge, but its lumen was filled with organisedthrombus. Again, the ciliary nerves around the opticnerve were observed to be unusually large.

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Discussion

Only a few well documented cases of retinal astro-cytomas2 and one case of astrocytoma of the opticnerve head4 have been reported.The special value ofthe present case is in its history and some objectivefindings, which indicate its congenital nature.Associated with a slightly anomalous optic nerve headon the other side, the involved eye in the present casecomes with a good history of being obviouslyabnormal and blind since birth. Unusually large ciliarynerves also indicate a primary neuroectodermalanomaly. However, study of the eye with its fullydeveloped cornea, lens, sclera, choroid, portions ofretina, and optic nerve indicates that it was relativelywell developed before it became blind. The history,clinical observations, and pathological findings fit thepicture of an eye that became involved with an intra-ocular tumour early in life-possibly before birth.This tumour slowly enlarged and filled the eye. It is

impossible to say exactly where in the eye it origina-ted, but the nasal displacement of the lens and thetemporal staphyloma suggest the retinal periphery onthe temporal side of the eye as a likely site of origin.The tumour was noninvasive, and thus it did notbreak the barriers of iris, Bruch's membrane, andlamina cribrosa. It caused posterior bulging of th'lamina cribrosa, however. Its slow growth attractedmost of the intraocular blood supply, and it causedatrophy of all other intraocular structures by com-pression and additional ischaemia. The ischaemia,finally, caused rubeosis, and the resulting secondaryglaucoma led to pain and enucleation. The final stage,with rubeosis and secondary glaucoma, is common incases with slowly growing intraocular tumours, ofcourse.As in all accepted cases of intraocular astrocytomas

the tumour in the present case was not associated withany evidence of neurofibromatosis or anotherphakomatosis. The distinctly enlarged ciliary nerves,

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Fig. 4 Occasionally the tumour cells assemble to form rosettes (arrows). Their nuclei are peripherally located and longcytoplasmic processes project to a central lumen. (Paraffin section, H and E stain, x300).

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however. are evidence of an overabundance of uvealnerves. which has been seen onlv as a congenitalcondition7 and not as a reaction to chronic eve disease.This is found in some cases of choroidal melanoma--often part of associated overabundance of melano-cvtes and primitive ganglion cells and definitelvrelated to so-called ocular melanosis. Uveal changesof this kind have been recognised as a congenitalpredisposition for the development of malignantuveal melanomas.89 The significance of the largeposterior ciliarv nerves in the present case is not clear.but their presence is a sign of a congenital anomalvwith excessive tissue of neuroectodermal origin. As inother hamartomas. the development of a retinalastrocvtoma would probabiv originate in primitiveglial elements left over from eariv development ratherthan from fullv differentiated glial cells of the retina. 0The present case, thus, not only presents with an

unusually advanced stage of an extremely rare andeasilv demonstrable intraocular tumour, but it also

offers some indications that the tumour developedverv earlv in life on the basis of a congenital anomaly.These facts are important additions to our knowledgenot oniv of intraocular gliomas but also of principlesconcerning the nature and growth ofocular neoplasmsin general.This wvork was sLipported KY the Research to Prevent BlindnessInc.

References

Ramsav RC. Kinvoun JL. Hill CW. Aturaliva lIP. KnohlochWH. Retinal astrocvtonia. 4m J O)phthalmot 1979: 88: 32-6.

2 Jordano J. Galera H. Toro M. Carrieras B. Astrocvtoma of theretina. BrJ Ophthalmol 1974: 58: 55 -9.

3 Yanoff M. Zimmerman LE. Davis RL. Massive Gliosis of theretina. itnt Ophthalmol C(lin 1971: 111'I l-29

4 Foos RY. Straatsma R. Allen RA. Astrocvtoma of the opticnerve head. Arch Ophthilmol 1965: 74: 3 19-26.

5 Oehmichen M. Extracerebrale Gliome in Gesichtshereich. ActaNeuropathol (Berl) 1971: 17: 321-30.

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Fig. 6 Cross-section ofthe atrophic optic nerve stlmp (N) with an extremelv narrowed arterv(A) and an organised thrombiusin the central vein (V). No neoplasm is present at this level. The dira (D) is thickened. (Paraffin section, Hand E.stain. x 75).

6 Wolter JR. Better transillumination of enucleated eves with an 9 Yanoff M. Zimmerman lIE. Histogenesis of malignantegg candeler. Trans Am Ophthalmol Soc 1972: 70: 353-6. melanomas of the uvea: III. The relationship of congenital ocular

7 Wolter JR. Brvson JM. Overabundance of uveal ganglion cells in melanocvtosis and neurofihromatosis to uveal melanoma. Arch

eves with choroidal melanoma. Am J Ophthalmol 1966: 62: Ophthalmol 1967:77: 331-6.1034-8.

8 Maklev TA. King CM. Malignant melanoma of the choroid in 1I1 Ogden TE. Nerve fiber laver astrocvtes of the primate retina:

melanosis oculi. Tran.s Am Acad Ophthalmol Otolarvngol 1967: morphology. distribution and densitv. Invest Ophthalmol Visual71: 638-41. .Sci 1978: 17: 499-51(0.

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