Macrophthalmos

Macrophthalmos
Bernadette L. Koch, MD
DIFFERENTIAL DIAGNOSIS
Common
  • Staphyloma
  • Neurofibromatosis Type 1
Less Common
  • Acquired Glaucoma
  • Congenital Glaucoma
Rare but Important
  • Congenital Myopia
  • Sturge-Weber Syndrome
  • Congenital Cystic Eye
  • Coloboma with Macrophthalmia
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
  • Elongated globe in anteroposterior (AP) dimension may be secondary to myopia, staphyloma, or coloboma
  • Diffuse enlargement of globe in AP and transverse dimension = buphthalmos (“ox eye” or “cow eye”)
    • Buphthalmos may be present in congenital glaucoma, neurofibromatosis type 1 (NF1), Sturge-Weber, acquired glaucoma
Helpful Clues for Common Diagnoses
  • Staphyloma
    • Key facts
      • Thinning and stretching of scleral-uveal layers of globe
      • Progressive myopia (nearsightedness) results in posterior staphyloma
      • Posterior staphyloma may also occur in glaucoma, connective tissue disorders, scleritis, necrotizing infection, or trauma
      • Anterior staphyloma may occur if infection or inflammation image corneal thinning
    • Imaging
      • Elongated globe, thinning of posterior wall, unilateral or bilateral
  • Neurofibromatosis Type 1
    • Key facts
      • Congenital neurocutaneous syndrome
      • Mutation of gene on chromosome 17
      • Orbitofacial abnormalities in NF1 typically unilateral
      • Plexiform neurofibroma (PNF) diagnostic
      • Up to 50% with facial and eyelid involvement have ipsilateral glaucoma
    • Imaging
      • Buphthalmos
      • Thickening of uveal and scleral layer; anterior rim enlargement
      • PNF orbit and skull base + sphenoid bony dysplasia image enlargement of orbital foramina and middle cranial fossa image herniation of intracranial contents into orbit image pulsatile exophthalmos
      • ± enlargement, tortuosity, and enhancement of optic nerve glioma
Helpful Clues for Less Common Diagnoses
  • Acquired Glaucoma
    • Key facts
      • Leading cause of blindness in African-Americans and 2nd leading cause of blindness worldwide
      • > 4,000,000 Americans have glaucoma; only 1/2 know they have it
      • Risk factors: African-American, > 60 years, family member with glaucoma, Hispanic, Asian, high myopia, diabetes mellitus, hypertension, trauma
      • Primary open angle > > angle closure
      • 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)
    • Imaging
      • Less plasticity in globe of adults; therefore buphthalmos and deep anterior chamber uncommon
  • Congenital Glaucoma
    • Key facts
      • Incidence 1:5,000-1:10,000 live births; boys > > girls; bilateral in majority
      • Present at birth; usually diagnosed within 1st year of life
      • Clinical: Large eyes, excessive tearing, cloudy cornea, and light sensitivity
      • Obstruction to flow of aqueous humor from anterior chamber image elevated intraocular pressure, enlargement of globe and deep anterior chamber
      • Normal mean anterior chamber depth: 3 mm; in congenital glaucoma, mean anterior chamber depth: 6.3 mm
      • Complications: Subluxated lens, optic nerve atrophy
    • Imaging
      • Enlarged AP dimension of globe
      • Deep anterior chamber
Helpful Clues for Rare Diagnoses
Aug 10, 2016 | Posted by in PEDIATRICS | Comments Off on Macrophthalmos

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