👶 Age of Onset: Early onset suggests congenital causes (e.g. congenital cataracts, retinoblastoma). Later onset → trauma, diabetes, or age-related cataracts.
🔎 Associated Symptoms:
- Blurred vision, poor visual tracking, or strabismus (eye misalignment 👀)
- Photophobia 🌞 (light sensitivity) or leukocoria ⚪ (white pupillary reflex)
👨‍👩‍👧 Family & Medical History: Genetic eye disease, early childhood blindness, systemic illness (diabetes, uveitis, TORCH infections).
📋 Previous Eye Evaluations: Prior exams, glasses use, or known pathology.

🧑‍⚕️ Physical Examination

🔦 Red Reflex Test: Ophthalmoscope to confirm presence/absence of reflex.
👁️ Inspection: Lens clouding, pupillary asymmetry, corneal scars.
⚖️ Ocular Alignment & Motility: Look for strabismus, restricted eye movements.
📊 Visual Acuity: Age-appropriate assessment of vision clarity.

🔬 Investigations

🖼️ Imaging:
- Ocular ultrasound – lens opacity, vitreous haemorrhage, retinal mass.
- MRI/CT – suspected tumour, trauma, or congenital anomalies.
🧬 Genetic Testing: If familial cataracts, retinoblastoma, or inherited syndromes suspected.
🧪 Laboratory: TORCH screen in neonates, glucose/HbA1c for diabetes, inflammatory markers for uveitis.

❌ Causes of Absent Red Reflex

🌫️ Cataract: Congenital (TORCH, metabolic, genetic) or acquired (age, trauma). → Cloudy vision, glare, poor fixation in infants.
🎗️ Retinoblastoma: Childhood retinal tumour (<5y). → Leukocoria ⚪, strabismus, urgent referral 🚨.
🌱 Persistent Fetal Vasculature (PFV): Failure of hyaloid artery regression. → Unilateral leukocoria in infants.
🩸 Vitreous Haemorrhage: Trauma, diabetic retinopathy. → Sudden loss of vision, floaters.
🪞 Retinal Detachment: Trauma, myopia, diabetes. → Flashes ⚡, floaters, curtain-like shadow over vision.
🌫️ Corneal Opacities: Trauma, infections, dystrophies. → Visible white/grey cornea, pain/photophobia.
🧪 Coats’ Disease: Rare retinal vasculopathy in boys. → Leukocoria, exudates, retinal detachment.
👁️ Advanced Glaucoma: High IOP → optic nerve damage. → Tunnel vision, pale disc, late absent reflex.

🛠️ Management

🚨 Urgent Ophthalmology Referral: Suspected retinoblastoma, retinal detachment, or severe congenital cataract.
🔧 Surgical Intervention:
- Congenital/acquired cataract extraction (ideally <8 weeks in infants to prevent amblyopia).
- Retinal detachment repair (laser, vitrectomy).
📈 Regular Monitoring: For progressive conditions like diabetic retinopathy or after surgery.
👨‍👩‍👧 Genetic & Supportive Care: Counselling for hereditary disease, family support, vision aids if irreversible loss.

💡 Clinical Pearls

👶 Any white reflex (leukocoria) in a child = retinoblastoma until proven otherwise.
⏱️ Early detection of congenital cataracts is critical – delayed surgery risks permanent amblyopia.
🔦 Always include red reflex in the newborn check.
📷 Parents often notice leukocoria in flash photographs – a vital early clue.

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Loss of red reflex

📝 Clinical History

🧑‍⚕️ Physical Examination

🔬 Investigations

❌ Causes of Absent Red Reflex

🛠️ Management

💡 Clinical Pearls

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