Download First reported case of a true complex intraocular choristoma

Unilateral intraocular complex
choristoma in a newborn infant
Authors
Caitriona 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 disclosure
The 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
Cornea replaced by opaque yellow plaque
• The mass measured 30mm in
length and 24×25mm in width
• Differential diagnosis:
Congenital cystic eye
Cystic teratoma
• Histological analysis was
performed
Optic nerve
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 occurrence
eg limbal dermoid, dermolipoma
• Composed of tissue arising from 1 or 2 germ layers
• Example: Osseous choristoma
Lacrimal gland choristoma
Phakomatous 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 old
Good cosmesis
Prosthesis fits securely in
socket