Macrophthalmos
Bernadette L. Koch, MD
DIFFERENTIAL DIAGNOSIS
Common
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Staphyloma
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Neurofibromatosis Type 1
Less Common
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Acquired Glaucoma
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Congenital Glaucoma
Rare but Important
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Congenital Myopia
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Sturge-Weber Syndrome
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Congenital Cystic Eye
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Coloboma with Macrophthalmia
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
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Elongated globe in anteroposterior (AP) dimension may be secondary to myopia, staphyloma, or coloboma
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Diffuse enlargement of globe in AP and transverse dimension = buphthalmos (“ox eye” or “cow eye”)
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Buphthalmos may be present in congenital glaucoma, neurofibromatosis type 1 (NF1), Sturge-Weber, acquired glaucoma
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Helpful Clues for Common Diagnoses
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Staphyloma
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Key facts
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Thinning and stretching of scleral-uveal layers of globe
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Progressive myopia (nearsightedness) results in posterior staphyloma
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Posterior staphyloma may also occur in glaucoma, connective tissue disorders, scleritis, necrotizing infection, or trauma
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Imaging
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Elongated globe, thinning of posterior wall, unilateral or bilateral
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Neurofibromatosis Type 1
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Key facts
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Congenital neurocutaneous syndrome
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Mutation of gene on chromosome 17
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Orbitofacial abnormalities in NF1 typically unilateral
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Plexiform neurofibroma (PNF) diagnostic
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Up to 50% with facial and eyelid involvement have ipsilateral glaucoma
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Imaging
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Buphthalmos
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Thickening of uveal and scleral layer; anterior rim enlargement
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± enlargement, tortuosity, and enhancement of optic nerve glioma
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Helpful Clues for Less Common Diagnoses
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Acquired Glaucoma
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Key facts
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Leading cause of blindness in African-Americans and 2nd leading cause of blindness worldwide
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> 4,000,000 Americans have glaucoma; only 1/2 know they have it
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Risk factors: African-American, > 60 years, family member with glaucoma, Hispanic, Asian, high myopia, diabetes mellitus, hypertension, trauma
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Primary open angle > > angle closure
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Diagnosis by tonometry (measures intraocular pressure), ophthalmoscopy (may show evidence of optic nerve atrophy), visual field tests (lose peripheral vision 1st), or gonioscopy (measure angle between iris and cornea)
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Imaging
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Less plasticity in globe of adults; therefore buphthalmos and deep anterior chamber uncommon
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Congenital Glaucoma
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Key facts
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Incidence 1:5,000-1:10,000 live births; boys > > girls; bilateral in majority
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Present at birth; usually diagnosed within 1st year of life
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Clinical: Large eyes, excessive tearing, cloudy cornea, and light sensitivity
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Normal mean anterior chamber depth: 3 mm; in congenital glaucoma, mean anterior chamber depth: 6.3 mm
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Complications: Subluxated lens, optic nerve atrophy
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Imaging
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Enlarged AP dimension of globe
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Deep anterior chamber
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Helpful Clues for Rare Diagnoses
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Congenital Myopia
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Key facts
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Idiopathic globe enlargement (AP dimension)
convergence of light anterior to retina (nearsightedness)
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