Makindo Medical Notes

Clinical History

1. Age of Onset: Identify the age when reflex loss was first noticed, as certain conditions are age-specific (e.g., congenital cataracts in infancy, acquired cataracts in older adults).
2. Associated Symptoms:
   • Visual symptoms, such as blurred vision, poor visual tracking, or eye misalignment (strabismus)
   • Photophobia (sensitivity to light) or leukocoria (white pupillary reflex)
3. Medical and Family History:
   • Family history of eye conditions, early childhood blindness, or specific genetic syndromes
   • History of infections, trauma, or systemic diseases (e.g., diabetes, uveitis) that could affect vision
4. Previous Eye Evaluations: Note any prior eye exams or known vision issues.

Physical Examination

1. Red Reflex Test: Use an ophthalmoscope to check for the presence or absence of the red reflex in each eye.
2. Inspection: Look for visible abnormalities in the eye, such as clouding of the lens or asymmetry in pupil size.
3. Ocular Alignment and Motility: Check for eye alignment issues (strabismus) or restricted movement, which may suggest underlying conditions.
4. Visual Acuity Test: Assess visual acuity if age-appropriate, to determine any vision loss.

Investigations

1. Imaging Studies:
   • Ultrasound of the eye to assess lens opacity, retinal issues, or masses if intraocular pathology is suspected.
   • MRI or CT of the orbit for cases where tumour, trauma, or structural abnormalities are suspected.
2. Genetic Testing: Consider genetic tests if hereditary conditions (e.g., retinoblastoma, familial cataracts) are suspected.
3. Laboratory Tests: Screen for systemic conditions, such as TORCH infections (toxoplasmosis, rubella, cytomegalovirus, herpes) in neonates or diabetes in older patients.

Possible Causes of Loss of Red Reflex

• Cataracts:
  • Congenital cataracts in infants, often due to genetic factors or infections
  • Acquired cataracts in older children or adults, commonly age-related or trauma-induced
• Retinoblastoma: Malignant tumour in children that can cause leukocoria and loss of red reflex.
• Persistent Fetal Vasculature (PFV): Rare congenital disorder causing a white reflex in infants.
• Retinal Detachment: Can cause an absent red reflex, particularly in cases of trauma or advanced diabetes.
• Corneal Opacities: Scarring, infections, or dystrophies can obstruct light and cause a loss of red reflex.
• Vitreous Haemorrhage: Bleeding within the eye, possibly from trauma or diabetic retinopathy, leading to loss of red reflex.
• Coats’ Disease: A rare disorder causing retinal vascular abnormalities, leading to leukocoria in children.

5. Management

1. Referral to Ophthalmology: Immediate referral for suspected retinoblastoma or severe visual impairment.
2. Early Surgical Intervention:
   • Cataract surgery in cases of significant congenital or acquired cataracts
   • Repair for retinal detachment, as early intervention is critical for visual recovery
3. Regular Monitoring: Follow-up for progressive conditions (e.g., diabetic eye disease) or post-surgery.
4. Supportive and Genetic Counselling: For hereditary conditions, offer genetic counselling and provide resources for family support.