Neonatal Corneal Opacities
Introduction
Corneal opacity in neonates represents a significant diagnostic and therapeutic challenge requiring immediate attention to prevent amblyopia and ensure proper visual development.
Key Points:
- Affects approximately 3 in 100,000 newborns
- Requires urgent evaluation within first weeks of life
- Can be unilateral or bilateral
- May indicate systemic disease or genetic syndrome
Etiology
1. Developmental Anomalies
- Peters Anomaly
- Central corneal opacity
- Absence of posterior corneal stroma
- Defects in Descemet's membrane
- Associated with PAX6 mutations
- Sclerocornea
- Peripheral opacity extending centrally
- Flattened cornea with scleral appearance
- Often bilateral
2. Metabolic Disorders
- Mucopolysaccharidoses
- Mucolipidoses
- Cystinosis
3. Inflammatory Conditions
- Birth Trauma
- Intrauterine Infections (TORCH)
- Toxoplasmosis
- Rubella
- Cytomegalovirus
- Herpes simplex
Clinical Features
Common Presentations:
- Cloudy or white appearance of cornea
- Photophobia
- Tearing
- Blepharospasm
- Associated features:
- Microphthalmia
- Anterior segment dysgenesis
- Glaucoma
- Cataracts
Associated Syndromes:
- Axenfeld-Rieger Syndrome
- Anterior segment dysgenesis
- Dental anomalies
- Facial dysmorphism
- Peters Plus Syndrome
- Short stature
- Developmental delay
- Cleft lip/palate
Diagnosis
Initial Evaluation:
- Complete ophthalmic examination
- Measurement of intraocular pressure
- Corneal diameter measurement
- B-scan ultrasonography
- Anterior segment OCT (when possible)
Systemic Workup:
- TORCH titers
- Genetic testing
- Metabolic screening
- Systemic examination for associated anomalies
Management
General Principles:
- Early intervention is crucial
- Multidisciplinary approach
- Regular monitoring for amblyopia
Specific Treatments:
- Medical Management
- Control of intraocular pressure
- Treatment of underlying cause
- Prophylactic antibiotics if needed
- Surgical Options
- Penetrating keratoplasty
- Optical iridectomy
- Combined procedures if needed
- Visual Rehabilitation
- Amblyopia therapy
- Low vision aids
- Early intervention services
Prognosis:
- Depends on:
- Extent of opacity
- Associated anomalies
- Timing of intervention
- Presence of systemic disease
