Microphthalmos

Microphthalmos
Bernadette L. Koch, MD
DIFFERENTIAL DIAGNOSIS
Common
  • Trauma, Orbit
  • Retinopathy of Prematurity (ROP)
  • Retinal Detachment (RD)
  • Coloboma
Less Common
  • Persistent Hyperplastic Primary Vitreous (PHPV)
  • Congenital Microphthalmos
Rare but Important
  • Infection, Other Pathogen, Orbit
  • Toxocariasis, Orbit
ESSENTIAL INFORMATION
Helpful Clues for Common Diagnoses
  • Trauma, Orbit
    • Key facts
      • Any trauma may lead to globe rupture
    • Imaging
      • Small globe ± ocular hemorrhage or detachment ± gas within globe
      • If foreign body: BB common; wood may be air or intermediate attenuation
      • Posterior scleral rupture may lead to deep anterior chamber
  • Retinopathy of Prematurity (ROP)
    • Retrolental fibroplasia
    • Key facts
      • Vasculoproliferative disorder in low birth weight premature infants
      • Secondary to exposure to supplemental O2
    • Imaging
      • Noncalcified, retrolental mass = retinal detachment
      • Bilateral microphthalmia, hyperdense globe ± calcification as late findings
  • Retinal Detachment (RD)
    • Key facts
      • 3 potential spaces/ocular detachments
      • Posterior hyaloid (between posterior hyaloid membrane and inner sensory retina)
      • Subretinal (between inner sensory retina and outer retinal pigmented epithelium)
      • Posterior choroidal (between choroid and sclera)
      • Ocular detachments occur in trauma, persistent hyperplastic primary vitreous (PHPV), ROP, ocular masses, Coats disease, or infection
    • Imaging
      • Retinal detachment = V-shaped density
      • Total retinal detachment may simulate persistent hyperplastic primary vitreous
  • Coloboma
    • Key facts
      • Normal or small globe size
      • Gap or defect of ocular tissue; may involve any structures of embryonic cleft
      • Optic disc coloboma (ODC): Defect confined to optic disc
      • Choroidoretinal coloboma (CRC): Separate from or extends beyond disc, arises from globe wall
      • Morning glory disc anomaly (MGDA): Central tuft of glial tissue within defect
      • Peripapillary staphyloma (PPS): Congenital scleral defect at optic nerve head; nearly all unilateral
    • Imaging
      • Focal outpouching of vitreous
      • Bilateral or unilateral
      • Usually with microphthalmos, rarely with macrophthalmos
      • ± optic tract and chiasm atrophy
      • Retrobulbar colobomatous cyst may communicate with globe
      • Sclera enhances, glial tuft in MGDA may enhance
      • Rarely dystrophic calcification at margins
      • ± other abnormalities if associated with syndromes (Meckel, Walker-Warburg, Aicardi, CHARGE), basal cephaloceles, midline facial clefting
Helpful Clues for Less Common Diagnoses
  • Persistent Hyperplastic Primary Vitreous (PHPV)
  • Key facts
    • Remnants of primary vitreous and primitive hyaloid artery (failure of involution) occur along course of Cloquet canal: Anterior, posterior, or both (most common)
    • 2nd most common cause of leukocoria after retinoblastoma
    • Sporadic, unilateral; bilateral more common in association with syndromes (Walker-Warburg, Norrie)
  • Imaging
    • Noncalcified, tubular, cylindrical, or triangular-shaped enhancing tissue within vitreous compartment
    • Microphthalmos, retinal detachment ± ↑ attenuation of entire vitreous body common
    • Small dysplastic lens and shallow anterior chamber with anterior involvement
  • Congenital Microphthalmos
    • Key facts
      • Microphthalmia = eye < 2/3 normal size, or < 16 mm axial dimension
      • Anophthalmia: Complete absence of globe or only vestigial remnant
    • Imaging
      • Small globe; unilateral or bilateral
      • ± intracranial structural abnormalities (more common in bilateral)
      • ± coloboma or cyst
Helpful Clues for Rare Diagnoses
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Aug 10, 2016 | Posted by in PEDIATRICS | Comments Off on Microphthalmos

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