Large Eye: Differential Diagnosis

With intraocular mass

• Retinoblastoma: With calcifications
• Melanoma: Without calcifications

Without intraocular mass

• Axial myopia: Most common cause of macrophthalmia. Idiopathic enlargement of the eyeball in the anteroposterior dimension with or without scleral thickening. May be unilateral or bilateral. May also be seen with orbital infections, Grave disease, and staphyloma.
• Buphthalmos: Greek for eye of the ox. Diffuse enlargement of the eye in children due to increased intraocular pressure. Seen in neurofibromatosis type 1, Sturge-Weber syndrome, Lowe syndrome, ocular mesodermal dysplasias (Axenfeld or Rieger anomalies), homocystinuria, aniridia, or acquired glaucoma (rare).
• Glaucoma: Increased intraocular pressure.
• Proteus syndrome: Hamartomas involving mesodermal and ectodermal tissues throughout the body. Macrocrania with multiple skull protuberances, asymmetric limbs, large eye, strabismus, myopia, anisocoria, microphthalmos, cataracts, retinal detachment, chorioretinitis, nystagmus, and heterochromia of the irises.
• Collagen vascular disease: Marfan syndrome (superolateral dislocation of the lenses), homocystinuria (inferomedial dislocation of the lenses), Ehler-Danlos syndrome, and Weill-Marchesani syndrome.
• Staphyloma: Focal thinning of the sclera from infection or inflammation leads to focal enlargement. May be isolated or related to axial myopia. Patients have a high risk for advanced chorioretinal degeneration. Can also be seen with glaucoma, trauma, scleritis, and necrotizing infections.

References

Smith M, Castillo M. Imaging and differential diagnosis of the large eye. Radiographics. 1994 Jul;14(4):721-8.