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British Journal ofOphthalmology 1992; 76: 507-508

Phakomatous choristoma of the orbit: a case report

Brian Leatherbarrow, Jeffrey A Nerad, Keith D Carter, Jacob Pe'er, Jean Spencer

AbstractWe report the case ofa 3-month-old infant witha rare phakomatous choristoma of the orbit.This lesion is believed to be a congenitalneoplasm of lenticular anlage. The clinical,radiological, and histopathological findingsare presented.(BrJ Ophthalmol 1992; 76: 507-508)

Zimmerman first described the clinical andhistopathological features of phakomatouschoristoma in three infants.' Since then therehave been six further case reports in this rare andunusual tumour.2-7 In all these cases the lesionwas described as a lower eyelid mass withoccasional extension posteriorly into the orbit. Inour case the lesion was located entirely posteriorto the orbit septum and was confined to theanterior orbit. We present the characteristicclinical, radiological, and histopathologicalfindings, and suggest that this lesion be added tothe differential diagnosis of an anterior orbitalmass in an infant.

Figure 2 Axial CT scan demonstrating a discrete well-circumscribed homogeneous anteromedial lesion in the rightorbit inferiorly.

Department ofOphthalmology,University ofIowaHospitals and Clinics,Iowa CityB LeatherbarrowJ A NeradK D Carter

Department ofOphthalmology,Hadassah UniversityHospital, Jerusalem,IsraelJ Pe'er

Private practice, DesMoines, IowaJ SpencerCorrespondence to:B Leatherbarrow, FRCS.Accepted for publication5 December 1991

Figure 1 Photograph ofthe infant demonstrating avisible mass lesion in theinferomedial aspect oftheright lower eyelid.

Case reportA 9-week-old female infant was seen by anophthalmologist with a history of a lump visiblein the inferomedial aspect of the right lowereyelid (Fig 1). The lesion had been noted by themother shortly after birth. This was associatedwith some swelling of the lower eyelid andepiphora. The lesion was initially thought to be amucocele of the lacrimal sac and was treatedconservatively. The lesion remaip,'1 unchangedand the patient was referred to the oculoplasticclinic having undergone a computed tomo-graphy (CT) scan of the orbits.The lesion had remained unchanged in size

since it was first noted. On examination a 1 cmx1 cm, discrete, firm, mass was palpable throughthe skin of the lower eyelid medially. It wassituated 05 mm lateral to the punctum. Thelesion was non-mobile, non-fluctuant, notattached to overlying skin, and there was nooverlying skin discoloration. There were noabnormal pulsations and no increase in size ofthelesion with a positive Valsalva manoeuvre.Pressure over the lesion was not associated withreflux of mucus or pus from the puncta. Therewas a mild degree of epiphora on the right sideand a fluorescein dye disappearance test wasprolonged. A cycloplegic refraction was per-

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Figure 3a Operative photograph demonstrating the anterioraspect ofthe lesion. The orbital septum has been opened tothe lesion. Intact orbital septum is seen laterally in theexpose wound.

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Figure 3b Photograph ofthe lesion excised intact.

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Figure 4a Low magnification photomicrograph ofthe lesiondemonstrating islands ofcuboidal epithelium embedded indense collagenous stroma.

formed the result of which was as follows: OD+0 50/+2 00x 120, OS+0 50.The infant was the product of a full-term

pregnancy. Delivery was normal and the babywas in good health. The remainder of the ocularexamination, as well as the general physicalexamination, was normal.The CT -scan showed a discrete, well

circumscribed, homogeneous, non-cysticanterior orbital lesion not involving the lacrimaldrainage apparatus (Fig 2). There were no otherorbital anomalies. Standardised echographyshowed the lesion to be well circumscribed andhighly reflective.A preoperative clinical diagnosis ofa neoplastic

lesion was made. The patient underwent anexcision biopsy of the lesion via a subciliary skinincision. The lesion was found to be posterior tothe orbital septum with which it was partiallyfused. The lesion was solid, white, and nodularwith no discrete capsule (Fig 3). It was dissectedfrom the surrounding tissues. It was adjacent tothe inferior oblique muscle and did not directlyinvolve the lacrimal drainage apparatus.The lesion measured 10x 8 x 4 mm.

Histological examination showed the tumour toconsist of dense collagenous stroma in whichislands of benign cuboidal epithelium wereembedded (Fig 4). These epithelial islandssurrounded central eosinophilic globules, con-sistent with lens cortex. Some of these globuleswere swollen and contained benign nucleiresembling 'bladder cells' of human cataractouslenses. The epithelial islands were surroundedby thickened basement membrane material.Small foci of dystrophic calcification were alsoidentified.

DiscussionThe clinical findings of this case are similar tothose ofpreviously reported cases except that thelesion in this case was confined to the orbit. 1-7The phakomatous choristoma always appears to

Figure 4b High magnification photomicrograph ofthe lesiondemonstrating an epithelial island surrounding a centraleosinophilic globule. The epithelial island is surrounded bythickened basement membrane material.

be confined to the antero-inferior aspect of theeyelid/orbit medially. This location is the mostconsistent feature of the lesion. Thc closeproximity of the lesion to the junction of thelacrimal sac and nasolacrimal duct was probablyresponsible for the infant's epiphora. Thisresolved spontaneously postoperatively.

It has been postulated that this lesion is due tosome of the surface ectodermal cells, which areinduced to form the lens plate and lens vesicle inthe embryo, remaining external to the opticvesicle as the embryonic fissure closes.7 Thesecells would then multiply and form thephakomatous choristoma after undergoingrudimentary differentiation. Its constant infero-nasal position might also be explained by theventronasal location of the embryonic choroidalfissure of the optic vesicle.

This is a rare and interesting tumour whichhas never been correctly diagnosed pre-operatively in any of the previously reportedcases. This case is no exception in this regard.The clinical, radiological, and echographiccharacteristics of this tumour together with anawareness ofits existence should permit its readydifferentiation from most other orbital lesionsoccurring in childhood in this anatomicallocation.

This research has been supported by an unrestricted grant fromResearch to Prevent Blindness, Inc, New York.

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2 Greer CH. Phakomatous choristoma of the eyelid. Aust JOphthalmol 1975; 3: 106-7.

3 McMahon RT, Font RL, McLean IW. Phakomatouschoristoma of eyelid. Arch Ophthalmol 1976; 94: 1778-81.

4 Baggesen LH, Jensen OA. Phakomatous choristoma of lowereyelid. Ophthalmologica 1977; 175: 231-5.

5 Tripathi RC, Tripathi B, Ringus J. Phakomatous choristoma ofthe lower eyelid with psammoma body formation. A light andelectron microscopic study. Ophthalmology 1981; 88: 1198-1206.

6 Filipic M, Silva M. Phakomatous choristoma of the eyelid. Atumouroflenticularanlage. Arch Ophthalmol 1972; 88: 172-5.

7 Eustis HS, Karcioglu ZA, Dharma S, Hoda S. Phakomatouschoristoma: clinical, histopathologic, and ultrastructuralfindings in a 4-month-old boy. J7 Pediatr OphthalmolStrabismus 1990; 27: 208-11.

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