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Congenital Ptosis

CHRONIC — Adnexa

Symptoms

  • Drooping of one or both eyelids present at birth or in early infancy.
  • Compensatory chin-up head posture (to see beneath the ptotic lid).
  • Marcus Gunn jaw-winking: Synkinetic elevation of the lid with jaw movement or sucking.
  • Associated concerns: Strabismus or decreased vision (amblyopia).

Clinical Findings

Key measurements

  • Margin-Reflex Distance 1 (MRD1): Distance from the corneal light reflex to the upper lid margin (ptosis if <2 mm).
  • Levator Function: Lid excursion from extreme downgaze to upgaze while fixing the brow (poor <4 mm; normal >12 mm).
  • Upper Lid Crease: Often absent or elevated due to levator fibrosis.

Pathognomonic signs

  • Lid Lag on Downgaze: The ptotic lid hangs HIGHER than the normal lid when looking down (indicates non-contractile fibrosis).
  • Marcus Gunn Jaw-Winking: Aberrant innervation between CN V (motor to pterygoids) and CN III (levator). The lid "winks" up with jaw opening or lateral excursion.

BPES tetrad

  • Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES):

1. Severe ptosis with poor levator function.

2. Short horizontal fissures (blepharophimosis).

3. Epicanthus inversus (skin fold arising from the lower lid).

4. Telecanthus.

Amblyogenic indications (operate <1 year)

  • Visual axis occlusion by the lid margin.
  • Induced anisometropic astigmatism (>1.5 D).
  • Abnormal chin-up head posture causing strabismus or neck issues.

Etiology

Primary pathology

  • Levator Fibrosis: Striated muscle is replaced by fibrous or fatty tissue, preventing both full contraction (elevation) and full relaxation (causing lid lag in downgaze).

Urgent neurogenic causes

  • Pediatric Horner Syndrome: Ptosis + miosis + anhidrosis. A pediatric emergency until neuroblastoma is ruled out.
  • CN III Palsy: Ptosis with associated motility deficits (check pupils).

Red Flags

  • Visual axis occlusion: High risk for irreversible deprivation amblyopia; requires surgery before age 1.
  • Anisometropic astigmatism: The weight of the lid can "mold" the cornea, requiring refraction and patching.
  • New-onset anisocoria: If the pupil on the ptotic side is smaller, urgently rule out neuroblastoma.
  • Progressive ptosis: Rule out Myasthenia Gravis or mitochondrial myopathy (CPEO).

Investigations

Clinical assessment

  • Visual acuity and cycloplegic refraction (screen for amblyopia/astigmatism).
  • Ocular motility and assessment of Bell phenomenon.

Quantitative lid exam

  • MRD1, palpebral fissure height, and levator function.
  • Check for Marcus Gunn jaw-winking by asking the child to chew or suck on a bottle.

Urgent systemic workup (if Horner suspected)

  • Urinary catecholamines (VMA/HVA).
  • MRI of the chest, abdomen, neck, and brain to screen for neuroblastoma.

Treatment

Surgical selection

  • Levator Function <4 mm: Frontalis suspension (Sling) using silicone, fascia lata, or Gore-Tex.
  • Levator Function >4 mm: Levator resection or advancement.

Specific syndromes

  • Marcus Gunn: Often requires bilateral levator excision + frontalis suspension to eliminate the "wink."
  • BPES: Always requires frontalis suspension due to poor levator function; telecanthus may require separate repair.

Amblyopia management

  • Aggressive patching and refractive correction often needed even after successful ptosis repair.

Clinical Pearl

Ptosis that covers the pupil is an amblyopia emergency. Unlike acquired ptosis, congenital ptosis shows "lid lag" on downgaze—if the lid stays high when looking down, the levator is fibrotic.

Differential Diagnosis

  • Simple congenital ptosis
  • Marcus Gunn jaw-winking
  • Horner syndrome (check for miosis)
  • Blepharophimosis syndrome (BPES)
  • Congenital CN III palsy
  • Pseudoptosis (e.g., from microphthalmos or contralateral lid retraction)

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