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Exophthalmos: Causes, Symptoms and Treatment

Exophthalmos describes the abnormal protrusion of one or both eyeballs from the eye socket. The most common cause is Graves disease, a thyroid disorder.

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Things worth knowing about "Exophthalmos"

Exophthalmos describes the abnormal protrusion of one or both eyeballs from the eye socket. The most common cause is Graves disease, a thyroid disorder.

What is Exophthalmos?

Exophthalmos (also spelled exophthalmus, or referred to as proptosis or protrusio bulbi) is the abnormal forward displacement of the eyeball (bulbus oculi) beyond the bony orbit. The condition may affect one eye (unilateral) or both eyes (bilateral) and is most often a sign of an underlying medical condition. A protrusion of more than 20 mm, or a side-to-side difference of more than 2 mm, is generally considered clinically significant.

Causes

The most common cause of bilateral exophthalmos is thyroid eye disease (also called Graves orbitopathy or endocrine orbitopathy), an autoimmune condition closely associated with Graves disease (hyperthyroidism). In this condition, autoantibodies attack the connective tissue and eye muscles within the orbit, causing swelling and forward displacement of the eyeball.

Other possible causes include:

Orbital tumors (e.g., hemangioma, lymphoma, metastases)
Orbital inflammation (orbital pseudotumor, orbital cellulitis)
Vascular abnormalities such as cavernous sinus fistula or orbital hematoma
Bone disorders affecting the orbit (e.g., Paget disease, fibrous dysplasia)
Rarely: systemic diseases such as lymphoma or leukemia

Symptoms

In addition to the visible protrusion of the eye, affected individuals may experience:

Foreign body sensation, burning, or excessive tearing
Light sensitivity (photophobia)
Double vision (diplopia) due to involvement of the extraocular muscles
Incomplete eyelid closure (lagophthalmos), which can lead to corneal dryness and damage
Pressure or pain behind the eyes
In severe cases: visual impairment or even vision loss due to compression of the optic nerve

Diagnosis

Diagnosis is based on a combination of clinical examination and imaging:

Hertel exophthalmometry: measurement of the degree of eyeball protrusion using a dedicated instrument
Ophthalmological assessment: visual acuity, intraocular pressure, slit-lamp examination, visual field testing
Imaging: computed tomography (CT) or magnetic resonance imaging (MRI) of the orbit to evaluate soft tissues, extraocular muscles, and the optic nerve
Laboratory tests: thyroid function tests (TSH, fT3, fT4) and TSH receptor antibodies (TRAb) if thyroid eye disease is suspected

Treatment

Treatment depends on the underlying cause and severity of the condition:

Conservative Measures

Lubricating eye drops and gels to protect the cornea from dryness
Sunglasses to protect against light and wind exposure
Smoking cessation (smoking significantly worsens thyroid eye disease)

Medical Therapy

Corticosteroids (e.g., intravenous methylprednisolone) to reduce inflammation in active thyroid eye disease
Teprotumumab: a monoclonal antibody specifically approved for the treatment of Graves orbitopathy
Treatment of the underlying thyroid dysfunction with antithyroid drugs, radioiodine therapy, or surgery

Radiation Therapy

Low-dose orbital radiotherapy may be used in active, inflammatory thyroid eye disease to suppress the inflammatory response.

Surgical Treatment

Orbital decompression: surgical enlargement of the bony orbit to relieve pressure on the optic nerve and eye muscles
Strabismus surgery for persistent double vision
Eyelid surgery to correct incomplete eyelid closure

References

Wiersinga WM, Kahaly GJ (eds.): Graves' Orbitopathy: A Multidisciplinary Approach. Karger Publishers, 3rd edition, 2017.
Bartalena L et al.: The 2021 European Group on Graves' Orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy. European Journal of Endocrinology, 2021. DOI: 10.1530/EJE-21-0479.
Dolman PJ: Evaluating and managing the patient with Graves orbitopathy. Medical Clinics of North America, 2015. DOI: 10.1016/j.mcna.2015.01.003.

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