Differential Diagnosis
The patient's presentation of a red eye in flash photographs, also known as leukocoria, warrants a thorough evaluation. Here's a categorized differential diagnosis:
Single most likely diagnosis
- D. retinoblastoma: This is a key consideration in any child presenting with leukocoria. Retinoblastoma is the most common primary malignant intraocular tumor in children, and leukocoria is a common presenting sign. The fact that the symptom has been present for 3 months and is noticeable in photographs increases the concern for a serious underlying condition like retinoblastoma.
Other Likely diagnoses
- B. cataract: A cataract can cause leukocoria due to the reflection of light off the opaque lens. However, cataracts are less common in infants and typically present with other symptoms such as vision loss or eye misalignment.
- A. amblyopia: While amblyopia (lazy eye) can cause vision problems, it is not typically associated with leukocoria. However, amblyopia can be a consequence of untreated retinoblastoma or cataract, making it a relevant consideration in the differential diagnosis.
Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- D. retinoblastoma (also listed as the single most likely diagnosis): Given its potential for malignancy and the importance of early detection, retinoblastoma must be ruled out.
- Coats disease: A rare eye disorder characterized by abnormal development of blood vessels behind the retina, leading to retinal detachment and vision loss. It can present with leukocoria and is more common in young males.
Rare diagnoses
- C. heterochromia: This condition, where there is a difference in color between the two irises, is benign and not typically associated with leukocoria.
- E. strabismus: Strabismus (crossed eyes) can cause eye misalignment but is not typically associated with leukocoria.
- Medulloepithelioma: A rare, malignant tumor of the ciliary body that can present with leukocoria.
- Retinal detachment: Although not typically presenting with leukocoria, retinal detachment can occur in children and may be associated with other symptoms such as vision loss or eye pain.
It is essential to conduct a thorough ophthalmologic examination, including a dilated fundus examination, to determine the cause of the leukocoria and rule out potentially life-threatening conditions like retinoblastoma.