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Peadiatric Leukocoria

Paediatric leukocoria is a white pupil or absence of a red reflex during the examination. It can be caused by: congenital cataract, retinoblastoma, persistent fetal vasculature, retinopathy of prematurity, Coats disease, and toxocariasis. The conditions that are not covered on this page a reviewed elsewhere.


Retinoblastoma

  • Most common primary intraocular malignancy in children

    Fundus photograph of a patient with retinoblastoma. By Tero Kivelä, CC BY 2.5.

  • Arises from Photoreceptor cells

  • Associated with RB1 mutation on Ch13.

  • Most commonly sporadic but can be AD

  • Histopathology classically shows Flexner rosettes

  • Presentation : 3 year old + leukocoria (often unilateral) + strabismus + decreased visual acuity + white round mass in fundus + ultrasound shows calcification

  • Management is typically with enucleation


Persistent Fetal Vasculature

Bergmeister’s papilla on fundoscopy. By Yoan Mboussou, CC BY-SA 4.0.

  • Also known as Persistent hyperplastic primary vitreous
  • It is the failure of embryonic hyaloid artery regression.
  • Presentation: 2wks old + premature + unilateral leukocoria + microphthalmia + Mittendorf’s dot

Mittendorf's dot is an examination finding of a posterior lens capsule opacity. Bergmeister's papilla is similar, but if it arises from the optic disc. Both of these findings are related to the hyaloid artery


Retinopathy of Prematurity

A retinal disease caused by oxygen therapy in premature infants


Pathology

Zones of retinopathy.

  • In utero, retinal vascular growth is driven by a relatively hypoxic state.
  • When premature infants are given oxygen therapy, the retinal vessels become disorganised and scarred. This can lead to retinal detachment and loss of vision
  • Retinal vessels reach the nasal ora serrata at 32 weeks and temporal serrata at 40 weeks. This means that the temporal retina is first affected because it is much weaker.

Zone Classification

  • Zone 1 → radius 2x distance from disc to fovea with the disc at the centre
  • Zone 2 → Edge of 1 to nasal ora serrata
  • Zone 3 → From 2 to remaining retina

Staging

  1. White line demarcating avascular areas
  2. Elevated thicker line
  3. Extra retinal fibrovascular proliferation or neovascularization of the vitreous
  4. Partial RD
  5. Total RD
  • Plus disease → signs of vessel dilation or tortuosity

Diagnostics

Presentation

  • Premature infant + <1500g + birth hypoxia

Diagnostics

  • Screening: high-risk infants with indirect ophthalmoscopy using a 28D lens.
    • All infants <32 weeks gestation or <1500g are high risk
  • If born <27 weeks gestation → screen at 30 weeks
  • If born 27-32 weeks OR > 32 weeks + <1500g → screen 4 weeks postnatal
  • Stage 3 OR plus disease → screen weekly
    • Otherwise → screen 2 weekly

Recall from the lens chapter that indirect ophthalmoscopy allows the examiner to visualise up to the peripheral edges of the retina, to ensure lesions are not missed.


Management

  • Transpupillary diode laser within 48 hours

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