DISEASES OF THE ORBIT

1. CONGENITAL MALFORMATIONS
Main congenital anomalies concerning the eye and orbit are:
- Anophthalmia → when a baby is born without one or both eyes → vision loss. Occurs in
>50% genetic syndromes caused by chromosomal anomalies or mutations in one of
several genes

- Microphthalmia → when one or both of baby’s eyes are small → blindness. Causes of
microphthalmia include prenatal exposure to teratogens, alcohol and TORCH infection

- Coloboma → is a gap in the structure of the eye that may affect the eyelid, iris, retina, or
optic nerve of one or both eyes. Coloboma of the eyelid is frequently associated with
epibulbar dermoid cysts

- Buphthalmos (congenital glaucoma) → rare developmental defect in the iridocorneal

filtration angle of the anterior chamber that prevents aqueous fluid from properly draining
from the eye → this obstruction increases intra-ocular pressure, which if untreated
damages the optic nerve → can cause complete blindness if untreated

- Optic nerve hypoplasia

- Crouzon disease → genetic disorder characterized by the premature fusion of certain skull
bones, affecting shape of the head and face → abnormal growth of these bones leads to
bulging eyes and vision problems caused by shallow eye sockets

- Exophthalmus

2. INFLAMMATORY DISEASE

Orbital cellulitis
Serious infection of the soft tissues behind the orbital
septum → more common in children → more commonly
caused by S. aureus, Str. pneumonie, Str. pyogenes, H.
influenzae.
Usually infection originates in the paranasal sinuses, but
can also spread from preseptal cellulitis.

Main symptoms, usually unilateral, are:

- Pain → exacerbated by eye movement
- Swelling → proptosis
- Malaise
- Visual impairment
- Pyrexia
- Tender, firm, erythematous and warm eyelids
- Conjunctival oedema
Complications may include:
- Optic neuropathy
- Increased IOP
- Keratopathy
- Subperiosteal abscess

Preseptal cellulitis
Infection of the subcutaneous tissues anterior to the orbital septum → more common than
orbital cellulitis → less serious but can still be associated with severe complications like
abscess formation, meningitis and cavernous sinus thrombosis.
Common causative agents are S. aureus and Str. pyogenes due to skin trauma,
conjunctivitis, sinusitis or haematogenous spread from another focus of infection.

Symptoms include:
- Swollen, firm, tender, red eyelid
- In contrast to orbital cellulitis → vision and ocular motility are unimpaired
- Pyrexia

Investigations include:
- CT scan
- Blood culture
- Bacterial culture

Management:
- High dose IV antibiotics
- Sinus washout
- Surgical drainage of abscess

Cavernous sinus thrombosis

Refers to clotting within the cavernous sinus, usually resulting from infections like sinusitis,
orbital cellulitis, otitits.
High mortality rate → 100% if untreated.

Symptoms include:
- Severe headache
- Malaise
- Nausea
- Proptosis
- Congestion of facial, conjunctival and retinal veins
- Reduced vision

Investigations include:
- MRI and MRI venography

Treatment:
- IV antibiotics
- Surgical drainage

Thyroid eye disease (TED)

It’s an autoimmune disease caused by the activation of orbital fibroblasts by
autoantibodies directed against thyroid receptors → disorder is characterized by
enlargement of the extraocular muscles, fatty and connective tissue volume.
TED is most frequently associated with hyperthyroidism (90% of cases) → however,
treatment of thyroid dysfunction does not necessarily affect the course of Grave’s
ophthalmopathy.

Main risk factors include genetic, immune and environmental factors, such as smoking
and stress.
More prevalent in women.

Presumed mechanism is activation of orbital fibroblasts by Grave’s disease-related

autoandibodies, resulting in fibroblasts expressing extracellular matrix molecules,
proliferating and differentiating into myofibroblasts → this leads to deposition of
glycosaminoglycans which bind water, causing swelling, congestion, extraocular muscle
enlargement and orbital fat expansion.

In addition, people with TED has increased expression of IGF-1R → antibodies are
produced against these receptors → increased collagen production → collagen builds upin
tissue around the eyes, leading to fibrosis.

The disease has two main phases:

- Initial phase → inflammatory phase with orbital and periorbital signs
- Static phase → decrease in the inflammatory phase and minimal improvement

Symptoms and signs include:

- Photophobia
- Lacrimation
- Dry eye
- Blurred vision or Double vision
- Dalrymple’s sign → eyelid retraction
- Unilateral/Bilateral exophthalmus
- Lid oedema
- Corneal ulceration
Investigations include:
- Patient history
- Signs and symptoms
- Measuring degree of proptosis → exophthalmometer
- Imaging

Treatment:
- Artificial tears
- Treatment of thyroid disorder
- Corticosteroids
- Radiotherapy
- Surgery → removing bone to relieve pressure or blepharoplasty

3. ORBITAL TUMOURS

- Dermoid cyst
It’s a congenital choristoma (benign tumour consisting of histologically normal cells
occurring in abnormal location) → one of the most common orbital tumour in children.
Dermoid cysts are composed of keratinized stratified squamous epithelium with hair
follicles, sebaceous glands, smooth muscle and sweat gland. Lumen contains keratin and
hair.

When fetal suture lines close during embryogenesis, embryonic epithelial nests may
become entrapped and form a cyst.

Signs and symptoms include:

- Palpable mass
- Proptosis
- Strabismus
- Globe displacement
- Inflammation
- Restriction in extraocular movements
- Diplopia

Investigations:
Superficial dermoid cyst usually appears as a painless, palpable mass in the supero-
temporal or supero-nasal quadrant → if the cyst leaks or ruptures with extrusion of oil
and keratin into adjacent tissue, granulomatous inflammation may be present.
Deeper orbital cysts may be partially palpable or non-palpable.

- MRI
- CT

Treatments:
Small, asymptomatic cysts do not require any treatment
→ they tend to stabilize or even decrease over years.
For bigger cysts, surgery is the treatment of choice.

If the cyst ruptures during surgery, a lipogranulomatous

inflammatory reaction may occur.

- Cavernous haemangioma
It’s a benign, slowly progressive vascular neoplasm surrounded by a fibrous capsule →
most common benign tumour of the orbit in adults.
Considered mostly as a vascular malformation rather than a neoplastic lesion.
Its location is most often within the muscle cone, lateral to the optic nerve.
Cavernous haemangioma is an encapsulated nodular mass composed of dilated, cavernous
vascular spaces separated by connective tissue stroma.

Signs and symptoms include:

- Axial proptosis
- Motility defects
- Optic nerve swelling

Investigation:
- CT
- MRI

Treatment:
Symptomatic lesions require surgical excision
- Rhabdomyosarcoma
Most common soft tissue sarcoma of childhood → tumour is derived from
undifferentiated mesenchymal cells that have the potential to differentiate into striated
muscle.
Various genetic predisposition have been identified.

Four subtypes are recognized:

- Embryonal
- Alveolar
- Pleomorphic

Signs and symptoms include:

- Rapidly progressive unilateral proptosis
- Superonasal/superior swelling
- Swelling and redness of overlying skin
- Diplopia

Investigations:
- MRI
- CT
- Incisional biopsy

Treatment:
Combination of radiotherapy, chemotherapy and
sometimes surgery.