Microphthalmos
Bernadette L. Koch, MD
DIFFERENTIAL DIAGNOSIS
Common
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Trauma, Orbit
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Retinopathy of Prematurity (ROP)
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Retinal Detachment (RD)
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Coloboma
Less Common
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Persistent Hyperplastic Primary Vitreous (PHPV)
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Congenital Microphthalmos
Rare but Important
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Infection, Other Pathogen, Orbit
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Toxocariasis, Orbit
ESSENTIAL INFORMATION
Helpful Clues for Common Diagnoses
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Trauma, Orbit
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Key facts
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Any trauma may lead to globe rupture
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Imaging
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Small globe ± ocular hemorrhage or detachment ± gas within globe
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If foreign body: BB common; wood may be air or intermediate attenuation
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Posterior scleral rupture may lead to deep anterior chamber
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Retinopathy of Prematurity (ROP)
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Retrolental fibroplasia
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Key facts
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Vasculoproliferative disorder in low birth weight premature infants
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Secondary to exposure to supplemental O2
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Imaging
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Noncalcified, retrolental mass = retinal detachment
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Bilateral microphthalmia, hyperdense globe ± calcification as late findings
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Retinal Detachment (RD)
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Key facts
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3 potential spaces/ocular detachments
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Posterior hyaloid (between posterior hyaloid membrane and inner sensory retina)
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Subretinal (between inner sensory retina and outer retinal pigmented epithelium)
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Posterior choroidal (between choroid and sclera)
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Ocular detachments occur in trauma, persistent hyperplastic primary vitreous (PHPV), ROP, ocular masses, Coats disease, or infection
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Imaging
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Retinal detachment = V-shaped density
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Total retinal detachment may simulate persistent hyperplastic primary vitreous
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Coloboma
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Key facts
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Normal or small globe size
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Gap or defect of ocular tissue; may involve any structures of embryonic cleft
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Optic disc coloboma (ODC): Defect confined to optic disc
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Choroidoretinal coloboma (CRC): Separate from or extends beyond disc, arises from globe wall
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Morning glory disc anomaly (MGDA): Central tuft of glial tissue within defect
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Peripapillary staphyloma (PPS): Congenital scleral defect at optic nerve head; nearly all unilateral
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Imaging
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Focal outpouching of vitreous
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Bilateral or unilateral
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Usually with microphthalmos, rarely with macrophthalmos
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± optic tract and chiasm atrophy
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Retrobulbar colobomatous cyst may communicate with globe
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Sclera enhances, glial tuft in MGDA may enhance
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Rarely dystrophic calcification at margins
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± other abnormalities if associated with syndromes (Meckel, Walker-Warburg, Aicardi, CHARGE), basal cephaloceles, midline facial clefting
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Helpful Clues for Less Common Diagnoses
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Persistent Hyperplastic Primary Vitreous (PHPV)
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Key facts
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Remnants of primary vitreous and primitive hyaloid artery (failure of involution) occur along course of Cloquet canal: Anterior, posterior, or both (most common)
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2nd most common cause of leukocoria after retinoblastoma
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Sporadic, unilateral; bilateral more common in association with syndromes (Walker-Warburg, Norrie)
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Imaging
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Noncalcified, tubular, cylindrical, or triangular-shaped enhancing tissue within vitreous compartment
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Microphthalmos, retinal detachment ± ↑ attenuation of entire vitreous body common
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Small dysplastic lens and shallow anterior chamber with anterior involvement
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Congenital Microphthalmos
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Key facts
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Microphthalmia = eye < 2/3 normal size, or < 16 mm axial dimension
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Anophthalmia: Complete absence of globe or only vestigial remnant
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Imaging
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Small globe; unilateral or bilateral
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± intracranial structural abnormalities (more common in bilateral)
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± coloboma or cyst
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Helpful Clues for Rare Diagnoses
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Infection, Other Pathogen, Orbit
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Key facts
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Viral (herpes simplex, herpes zoster, CMV, rubella, rubeola, mumps, EBV)
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Bacterial (syphilis, Lyme, brucellosis, cat scratch, E. coli)
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Fungal (candidiasis) or parasitic (Toxocara canis)
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Most patients are not imaged
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Most treated without sequelae of microphthalmia
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Imaging
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Thickened, enhancing sclera (scleritis)
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Thickened, enhancing uvea (uveitis)
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↑ attenuation/signal of vitreous secondary to ↑ protein ± uveitis ± ocular detachment in endophthalmitis
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Endophthalmitis: Intraocular infectious or inflammatory process involving vitreous cavity or anterior chamber
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Toxocariasis, Orbit
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Key facts
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Inflammatory response to nematode Toxocara canis causes chorioretinitis
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Granulomatous inflammation surrounds dead larvae
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May appear as focal posterior or peripheral retinal granuloma
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