Introduction

Congenital eye anomalies encompass a diverse group of developmental abnormalities affecting various parts of the eye and visual system, present at birth or manifesting early in life.

Key Points:

• Affects approximately 2-3 per 1000 live births
• Major cause of childhood visual impairment
• Often associated with systemic conditions
• Early detection crucial for optimal outcomes
• Genetic counseling often necessary

Anterior Segment Anomalies

1. Corneal Anomalies:

• Microcornea
  • Corneal diameter < 10mm
  • Often associated with microphthalmos
• Megalocornea
  • Corneal diameter > 12mm
  • X-linked inheritance common
• Developmental Anomalies
  • Peters anomaly
  • Sclerocornea
  • Dermoid

2. Anterior Chamber Anomalies:

• Axenfeld-Rieger Syndrome
  • Posterior embryotoxon
  • Iris hypoplasia
  • Glaucoma risk
• Primary Congenital Glaucoma
  • Elevated IOP
  • Buphthalmos
  • Haab's striae

3. Iris Anomalies:

• Aniridia
  • PAX6 mutations
  • Associated with Wilms tumor
• Coloboma
  • Inferior defect
  • Can affect multiple structures

Posterior Segment Anomalies

1. Retinal Anomalies:

• Retinal Dysplasia
  • Abnormal retinal development
  • Often associated with systemic conditions
• Familial Exudative Vitreoretinopathy
  • Abnormal vessel development
  • Variable expressivity
• Retinoblastoma
  • Most common primary intraocular malignancy
  • Hereditary and sporadic forms

2. Optic Nerve Anomalies:

• Optic Nerve Hypoplasia
  • Small optic disc
  • Associated with septo-optic dysplasia
• Morning Glory Syndrome
  • Funnel-shaped disc
  • Associated with basal encephalocele
• Optic Pit
  • Risk of serous retinal detachment
  • Usually unilateral

Orbital Anomalies

1. Globe Size Anomalies:

• Microphthalmos
  • Axial length < 21mm
  • Simple vs complex
  • Associated with systemic syndromes
• Anophthalmos
  • Complete absence of globe
  • Primary vs secondary

2. Orbital Position Anomalies:

• Hypertelorism
  • Increased interpupillary distance
  • Associated with craniofacial syndromes
• Hypotelorism
  • Decreased interpupillary distance
  • Often seen in holoprosencephaly

Systemic Associations

1. Chromosomal Disorders:

• Trisomy 13
  • Microphthalmos
  • Coloboma
  • Retinal dysplasia
• Trisomy 21
  • Brushfield spots
  • Keratoconus
  • Strabismus

2. Genetic Syndromes:

• CHARGE Syndrome
  • Coloboma
  • Heart defects
  • Multiple systemic anomalies
• Sturge-Weber Syndrome
  • Port-wine stain
  • Glaucoma
  • Choroidal hemangioma

Management Principles

Initial Evaluation:

• Comprehensive eye examination
• Visual acuity assessment
• Systemic evaluation
• Genetic testing when indicated
• Family screening

Treatment Strategies:

• Visual Rehabilitation
  • Refractive correction
  • Amblyopia therapy
  • Low vision aids
• Surgical Management
  • Timing crucial
  • Condition-specific approach
  • Regular follow-up

Long-term Care:

• Regular monitoring
• Early intervention services
• Psychosocial support
• Educational planning
• Family counseling