Questions and Answers
Which condition is most commonly associated with leukocoria as an inherited disorder?
What symptom might indicate the presence of leukocoria in an infant aside from visible white pupil?
Which of the following conditions is known to be a differential diagnosis for leukocoria?
Which etiology of congenital cataracts is related to conditions that occur during pregnancy?
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In which scenario is leukocoria most commonly observed?
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What is a possible outcome of untreated amblyopia that can be associated with leukocoria?
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What is the recommended treatment for congenital cataract presenting with leukocoria?
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Among the following, which condition is NOT typically associated with leukocoria?
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What is the primary reason most surgeons prefer contact lenses (CL) over intraocular lenses (IOL) for treating unilateral cataracts in infants?
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Which of the following is NOT a common presenting sign of retinoblastoma?
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Persistent hyperplastic primary vitreous (PHPV) is characterized by what main issue?
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What is the most common cause of retinal detachment in the pediatric population?
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Which of the following conditions is associated with an increased risk of retinal detachment?
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In the context of PHPV, what is the visual outcome for the majority of patients who do not undergo surgery?
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What is the primary treatment modality for retinoblastoma if it has spread beyond the eye?
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What characteristic does Coats' disease exhibit?
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Which of the following is not typically a consequence of myelinated nerve fibers?
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What is Toxocariasis primarily caused by?
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Study Notes
Definition of Leukocoria
- White pupil appearance often noted in flash photography.
Differential Diagnoses of Leukocoria
- Strabismus
- Anisometropia
- Congenital Cataract
- Persistent Fetal Vasculature
- Retinoblastoma
- Retinal Detachment
- Coloboma
- Myelinated Nerve Fiber Layer (NFL)
- Retinopathy of Prematurity
- Coats disease
- Toxocariasis
- Toxoplasmosis
- Cytomegalovirus
- Norrie’s disease
- Morning glory disc anomaly
- Incontinentia Pigmenti
Etiology of Leukocoria
- Unknown prevalence, can be inherited or associated with syndromes.
- Unilateral cases primarily have unknown origins.
- Congenital cataracts are generally inherited and mostly bilateral, but can link to:
- Intrauterine infections
- Metabolic disorders
- Chromosome abnormalities and syndromes
- Trauma and medications.
Signs and Symptoms
- Opacity of the lens detected at birth.
- May present with leukocoria, nystagmus in one or both eyes, and strabismus.
- Can lead to deprivation amblyopia if greater than 3 mm.
- No relative afferent pupillary defect (APD) observed.
Treatment Options
- Cataract extraction recommended within days to weeks.
- Post-operative treatment for amblyopia.
- Use of SilSoft contact lenses or intraocular lenses (IOL).
- Investigate potential underlying disorders; treatment may be necessary.
- If cataract is not visually significant, monitoring may be sufficient.
Infant Aphakia Treatment Study (IATS)
- Compared outcomes of contact lens (CL) vs. IOL in unilateral cataract.
- No significant vision difference between CL and IOL groups at ages 1 and 4.5.
- Approximately half of participants achieved vision of 20/200 or better.
- Higher complication rates noted in IOL group; more surgeries required.
- Both groups showed about one-third developed glaucoma.
Persistent Hyperplastic Primary Vitreous (PHPV)
- Involves failure of primary vitreous regression, usually unilateral.
- Associated with fibrous tissue attaching to lens back.
- Possible complications: vascular traction, shallow anterior chamber, microphthalmos, cataract, persistent hyaloid artery.
PHPV Treatment and Visual Outcomes
- Surgical options include cataract extraction with IOL, vitrectomy, and removal of embryonic remnants.
- Visual outcomes vary based on the treatment, with successful vision (20/50 or better) in 12.6% of cases.
Retinoblastoma
- Most common pediatric neoplasm, hereditary in 25% of cases, often bilateral.
- Presenting signs include leukocoria (56%), strabismus (20%), painful red eye (7%), and poor vision (5%).
- Treatment methods include chemotherapy, radiation therapy, laser therapy, cryotherapy, and enucleation.
Retinal Detachment
- Most frequently occurs due to trauma in pediatric cases.
- Other causes include proliferative retinopathy, high myopia, aphakia, and retinopathy of prematurity (ROP).
Coats Disease
- Characterized by peripheral retinal telangiectasia and exudation; may cause serous retinal detachment.
- More prevalent in males, typically unilateral.
- Considered idiopathic.
Toxocariasis
- Infection caused by Toxocara canis/cati resulting in retinal granuloma and severe inflammation.
- Usually unilateral and without effective treatment.
Myelinated Nerve Fibers (NFL)
- Presents as superficial white retinal lesions with feathery borders, can be unilateral or bilateral.
- Vision loss is uncommon unless the macula is affected, often associated with high myopia.
Coloboma
- Results from incomplete closure of the embryonic optic fissure, often in the inferior nasal area of the optic disc.
- Vision loss severity depends on the size and location of the coloboma.
- Increased risk of retinal detachment associated with coloboma.
- Part of CHARGE syndrome, which includes coloboma, heart defects, atrial abnormalities, growth retardation, and ear development issues.
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Description
This quiz explores the definition, causes, and various differential diagnoses of leukocoria, a condition characterized by a white pupil appearance. It highlights the etiology and associated signs and symptoms, providing valuable insights for understanding this condition in clinical practice.
