Retinoblastoma differential diagnosis

Retinoblastoma Microchapters
Home
Patient Information
Overview
Historical perspective
Classification
Pathophysiology
Causes
Differentiating Retinoblastoma from other Diseases
Epidemiology & Demographics
Risk Factors
Screening
Natural history, Complications, and Prognosis
Diagnosis
Diagnostic Study of Choice
History & Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Retinoblastoma differential diagnosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Retinoblastoma differential diagnosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Retinoblastoma differential diagnosis
CDC on Retinoblastoma differential diagnosis
Retinoblastoma differential diagnosis in the news
Blogs on Retinoblastoma differential diagnosis
Directions to Hospitals Treating Retinoblastoma
Risk calculators and risk factors for Retinoblastoma differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1],Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

Retinoblastoma must be differentiated from other diseases that cause leukocoria, such as [differential dx1], [differential dx2], and [differential dx3].

Differential diagnosis

The common causes of leukocoria in children include:

• Congenital Cataract
• Persistent fetal vasculature
• Coats disease

Less common causes of leukocoria include:

• Coloboma (fissure or cleft) of choroid or optic disc
• Toxocariasis
• Astrocytic hamartoma
• Retinopathy of prematurity (stage 4, 5)
• Vitreous hemorrhage
• Uveitis (pars planitis)
• Retinal dysplasia
• Medulloepithelioma

Differentiating features of some common and less common differential diagnosis are:

Disease/Condition	Differentiating Signs/Symptoms	Differentiating Tests
Congenital Cataract	Presents at birth. Lens opacification rare in retinoblastoma.	Fundus examination reveals lens opacification. Ultrasound shows increased echogenicity of lens.
Coats disease (exudative retinitis or retinal telangiectasis)	Most cases are unilateral. Mean age at presentation is 6 years. More common in males.	Fundus examination: lesion appears more yellow-colored (versus chalky white-gray in retinoblastoma); telangiectatic and aneurysmal retinal vessels are characteristic of Coats disease but uncommon in retinoblastoma. Spectral domain optical coherence tomography may be helpful in distinguishing Coats disease from retinoblastoma. Ophthalmic ultrasound: can be misleading because calcification can also be seen in Coats disease.
Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)	Associated with a micro-ophthalmic eye (a small, malformed eye). Often associated with a cataract (rare in retinoblastoma). Congenital (retinoblastoma uncommonly presents at birth). Dragging of the ciliary processes on exam.	Measurement of axial length using fundus examination and ultrasound shows short axial length in persistent fetal vasculature.
Retinopathy of prematurity (ROP)	Generally occurs in premature children given high-dose oxygen. Can result in total retinal detachment.	Fundus examination: reveals gliotic-appearing retina, which is different from the retinal detachment associated with retinoblastoma.
Ocular toxocariasis	Generally causes vitreoretinal traction and ocular inflammation not seen in retinoblastoma.	Fundus examination reveals the characteristic signs.