What is the Differential Diagnosis of Leukocoria?
Tuesday, January 2nd, 2007Patient Presentation
A previously full-term, 2-month-old male came to clinic for his health supervision visit. His parents reported that he was doing well including no concerns about his vision or hearing.
The pertinent physical exam showed an infant with growth parameters in the 75-90%. On his visual examination he showed some turning of his head with the cover test when his right eye was occluded.
His ophthalmologic examination showed a white/gray pupillary reflex in the left eye. The anterior chamber and lens appeared normal. Posteriorly, no normal landmarks could be seen and the white/gray coloration had a “bubbly” quality to the heterogeneity.
The right eye showed a normal red reflex and normal retinal vessels and part of the optic disk. The rest of his examination was normal.
The parents continued to say that they and no other family members or friends had noticed any abnormalities and he was otherwise well. They also denied trauma.
The work-up was an immediate consultation with a pediatric ophthalmologist and the diagnosis of unilateral retinal detachment was made. He was taken to the operating room and had the detachment surgically corrected.
At follow-up two months later, the surgical correction was intact and he had a myopia which was being treated with glasses. Although he had no obvious physical abnormalities associated with a congenital syndrome, he was referred to genetics for consultation.
Discussion
Retinal detachment is not common in infants and children and usually is caused by trauma or retinopathy of prematurity. There are 3 types:
- Rhegmatogenous (most common) – where a hole or tear in the retina develops with build up of fluid underneath the retina and subsequent lifting of the retina away from the underlying tissues
- Traction (second most common) – where the retina is pulled away from the underlying tissues
- Exudative – where subretinal fluid accumulates between the retina and the underlying tissues
Learning Point
Leukocoria can be caused by congenital or acquired eye diseases. This is an ophthalmologic emergency particularly because of the need to promptly diagnose and treat conditions such as retinoblastoma, glaucoma, retinal detachment and infections.
The differential diagnosis of leukocoria includes:
- Anterior chamber or lens abnormalities
- Cataract
- Corneal opacity
- Glaucoma
- Hypopyon (i.e. white blood cells accumulating in the anterior chamber)
- Congenital abnormalities
- Coloboma of retina, choroid or optic nerve
- Incontinentia pigmenti
- Myelinated nerve fibers
- Myopia, high
- Norrie disease
- Persistent hyperplastic primary vitreous
- Retinal detachment
- Retinal fold
- X-linked retinoschisis
- Infection
- Toxocara
- Inflammation
- Endophthalmitis
- Uveitis
- Neoplasia
- Retinoblastoma
- Medulloepithelioma
- Trauma
- Foreign body
- Retinal detachment
- Retinal fibrosis
- Vitreous hemorrhage that is organizing
- Vascular abnormalities
- Choroidal hemangioma
- Coats’ disease
- von Hippel disease
Questions for Further Discussion
1. What causes glaucoma?
2. What is the treatment and prognosis for retinoblastoma?
3. How often does retinopathy of prematurity cause retinal detachment?
Related Cases
- Disease
- Retinal Detachment
Eye Diseases
Retinal Disorders
- Symptom/Presentation
- Specialty
- Age
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Information prescriptions for patients can be found at MedlinePlus for these topics: Retinal Disorders and Eye Diseases.
To view current news articles on this topic check Google News.
Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:2386-2387, 2396.
Gariano RF, Kim CH. Evaluation and management of suspected retinal detachment.
Am Fam Physician. 2004 Apr 1;69(7):1691-8. Available from the Internet at http://www.aafp.org/afp/20040401/1691.html (rev. 4/1/2004, cited 11/27/06).
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients is gathered.
3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
4. Patient management plans are developed and carried out.
7. All medical and invasive procedures considered essential for the area of practice are competency performed.
8. Health care services aimed at preventing health problems or maintaining health are provided.
9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
Author
Donna M. D’Alessandro, MD
Associate Professor of Pediatrics, Children’s Hospital of Iowa
Date
January 2, 2007
