| More common causes (in order of frequency) | Distinguishing clinical features |
| Retinoblastoma | - Typically presents in children <3 years old
- Approximately one-third of cases are bilateral
- Family history is positive in approximately 10%
- The characteristic finding on dilated eye examination is a chalky, off-white retinal mass with a soft, friable consistency
- Ocular ultrasound shows an intraocular mass with calcification; globe size is usually normal, though advanced eyes can present with buphthalmos
|
| Cataract* | - May be congenital or acquired*
- May be unilateral or bilateral
- Often associated with underlying genetic disorder, systemic disease, or medication exposure (eg, glucocorticoids)
- Ophthalmologic examination reveals lens opacity
|
| Coats disease | - Almost always unilateral
- Far more common in boys compared with girls; primarily affects males <18 years old, but can present in adulthood
- Leukocoria tends to be yellow in color (due to presence of subretinal lipid)
- Ophthalmologic examination reveals subretinal lipid and abnormal telangiectatic vessels
- Ocular ultrasound in severe cases may demonstrate complete retinal detachment with massive subretinal lipid; calcifications are not present
|
| Persistent fetal vasculature | - Presents shortly after birth
- Almost always unilateral
- The involved eye is usually smaller than the fellow eye
- Anteriorly rotated ciliary body processes can be appreciated in many cases, which is a pathognomonic finding
- Ocular ultrasound may demonstrate retinal detachment; calcifications are not present
- Affected patients may also develop glaucoma, cataract, or intraocular hemorrhage
|
| Vitreous hemorrhage | - Most common cause of vitreous hemorrhage in young children is trauma (including abusive head trauma)
- Other causes include advanced ROP and bleeding disorders
- Over time, the hemorrhage transforms from reddish color into whitish debris
- Can be distinguished from retinoblastoma by the absence of a mass and/or calcifications on ocular ultrasound
- If the diagnosis is uncertain, CT can be performed to more definitively rule out calcification before any attempted surgical procedures
|
| Ocular toxocariasis (ocular larva migrans) | - Results from infection with the larvae of the dog ascarid, Toxocara canis, or, less commonly, the cat ascarid, Toxocara cati
- Most common among children with exposure to playgrounds and sandboxes contaminated by dog or cat feces
- Findings on ophthalmoscopic examination may include a whitish subretinal granuloma or a large mass with vitreous inflammation
- Retinal traction is almost always present (this helps to distinguish it from retinoblastoma, which does not present with retinal traction)
- On ocular ultrasound, calcification may rarely be seen in association with the granuloma
- Serology tests can help make the diagnosis, but the sensitivity is lower for ocular larva migrans compared with visceral larva migrans
|
| Retinal dysplasia | - Hereditary retinal dysplasia disorders are associated with bilateral retinal dysplasia and are often associated with bilateral retinal detachment:
- FEVR is an autosomal dominant disorder; it appears similar to ROP, but without history of prematurity
- Norrie disease is an X-linked disorder presenting in males; it is associated with microcephaly, congenital blindness, deafness, and progressive neuropsychiatric illness
- Incontinentia pigmenti is an X-linked dominant disorder present only in females (it is lethal in utero in males); it is associated with hyperpigmented skin lesions
- Retinal dysplasia caused by intrauterine infections (eg, CMV, toxoplasmosis) is usually associated with additional clinical findings (intracranial calcifications, CNS abnormalities, jaundice, hepatosplenomegaly, thrombocytopenia)
|
| Retinal detachment | - May be caused by trauma (including abusive head trauma), severe ROP, or hereditary retinal dysplasia syndromes (refer to above)
- ROP causes leukocoria only when there is tractional retinal detachment (ie, stage 4 or 5)
|
| Coloboma (fissure or cleft) of the optic disc | - Appears as a sharply defined, white, inferiorly decentered excavation of the optic disc
- Occur unilaterally or bilaterally with equal frequency
- Often occurs with colobomas of the iris and ciliary body
- The main feature distinguishing coloboma from retinoblastoma is the absence of an intraocular mass
|
| Astrocytic hamartoma | - Appear as gray-white tumors often near the optic nerve
- Usually associated with neurocutaneous disorders (eg, tuberous sclerosis complex and neurofibromatosis type 1)
- Can be distinguished from small retinoblastoma tumors with optical coherence tomography, which demonstrates hyper-reflective elevations confined to the retinal nerve fiber layer
|
| Less common causes |
| Conditions associated with retinal dysplasia and/or detachment (other than those listed above) |
- Cutis marmorata telangiectatica
- Stickler syndrome
- Turner syndrome
- Walker-Warburg syndrome
- Congenital retinoschisis
|
| Conditions associated with intraocular inflammation/infection (other than toxocariasis) |
- Juvenile idiopathic arthritis
- Sarcoidosis
- CMV
- Toxoplasmosis
- Endophthalmitis
- Uveitis (pars planitis)
|
| Ocular tumors other than retinoblastoma and astrocytic hamartoma |
- Leukemia (with ocular involvement)
- Choroidal nevus or melanoma
- Metastatic tumors
- Choroidal osteoma
- Medulloepithelioma ("diktyoma")
- Combined hamartoma of the retina and the retinal pigment epithelium
- Choroidal hemangioma
- Glioma of the optic nerve head
|
| Optic disc abnormalities other than coloboma |
- Morning glory disc
- Myelinated nerve fibers
- Malignant infiltration
|
