Unilateral intraocular complex choristoma in a newborn infant

AuthorsCaitriona Kirwan1, Susan Kennedy2, Michael O’Keefe1

Department of Paediatric Ophthalmology, The Children's University Hospital, Temple Street1,

Department of Pathology, Royal Victoria Eye & Ear Hospital2, Dublin,

Ireland

Financial disclosureThe authors have no financial interest in the subject matter of this poster

ASCRS, San Diego, 2011

Background

• A female infant was born to healthy, unrelated parents following an uneventful pregnancy and delivery

• At birth she was found to have a large mass protruding from the left orbit, completely replacing the normal globe

• The mass was well circumscribed and moved partially on movement of the other eye indicating some attachment to extra-ocular muscles. However, normal eye structures were not apparent. The upper and lower eyelids were stretched significantly to accommodate the large mass

• Systems review revealed no other abnormalities

Normal eye structures not evident

Transillumination

The child was brought to the operating room where examination was performed

Exploration of the mass posterior to the equator revealed the presence of extraocular muscles

Rectus muscle

Following removal of the mass – the contour of the eyelids was more evident. Both the upper and lower lids had in effect ‘cicatricial’ ectropions with extremely tight skin and absent fornices

The width of the palpebral aperture from nasal to temporal extremities was increased compared to the fellow eye

A conformer was placed in the socket and a lateral tarsorrhaphy was performed

←30mm→

←25

mm

→

←24mm→

• The mass measured 30mm in length and 24×25mm in width

• Differential diagnosis:

Congenital cystic eye

Cystic teratoma

Optic nerve

• Histological analysis was performed

Cornea replaced by opaque yellow plaque

Histology

• Cystic, partially calcified lesion• Skin & subcutaneous tissue over sclera

• Anteriorly complex solid/cystic mass:epithelial inclusion cyst surrounded by mature fat tissue, mesenchymal tissue including striated muscle and neural tissue with ependymal-like cystic structures

• Posteriorly:small amount of compressed intraocular tissue – choroid, retina & poorly formed anterior segment structures, RPE & ciliary body

Histology

• Retina: small areas of intra-retinal calcification, retinal dysplasia & well formed rosettes & nodule of vascularised fibrous tissue & adipose tissue

• No evidence of cornea, anterior chamber or angle structures or lens

• Optic nerve histologically normal

• Diagnosis: Extensive anterior intraocular complex choristoma with hypoplastic intraocular tissues

Congenital Cystic Eye

• Rare ocular and orbital malformation describing an intraorbital cavity lined by neuroglial tissue

• Primary developmental abnormality of the globe caused by an invaginational arrest of the primary optic vesicle between the 2 & 7mm stages of fetal development

• ~30 reported cases in literature• Chaudhry et al, Int Ophthal 2007• Gupta et al, BMC Ophthal 2003

• Frequently associated systemic abnormalites• Anophthalmia

Teratoma

• Rare congenital choristoma arising from all 3 germ layers; ectoderm, mesoderm & endoderm

• Orbital teratoma – rare congenital tumour• 2:1 female preponderance• Normal fellow eye• Rare cases of malignant transformation

• 2 previous reports of teratoma arsing within the globe• Leventer et al. AJO 2001• Kivela et al. Ophthalmology 1993

• Pathogenesis:• Circulating pluripotential stem cells carried haematogenously to the orbit

are incorporated within the eye during closure of the embryonic fissure

Choristoma

• Congenital proliferation of histologically mature tissue elements not normally present at the site of occurrenceeg limbal dermoid, dermolipoma

• Composed of tissue arising from 1 or 2 germ layers• Example: Osseous choristoma

Lacrimal gland choristomaPhakomatous choristoma of eyelid

• First reported case of a true complex intraocular choristoma

Conclusion

• Extremely rare case• Cosmesis an important issue• Multiple conformers inserted • Skin graft to lower lid

• Latest follow up:4 years oldGood cosmesisProsthesis fits securely in socket