Summary of paediatric opthalmology

The causes of visual impairment in children can be classified into:

Genetic (albinism, retinoblastoma, Oculocutaneous albinism)
Ante/perinatal (congenital infections causing cataracts, retinopathy of prematurity, cerebral damage)
Postnatal (juvenile idiopathic arthritis, infection, trauma)

Oculocutaneous albinism is a genetic disease which causes a defect in the production of melanin. Oculocutaneous albinism demonstrates autosomal recessive inheritance.
Children with oculocutaneous albinism have no skin pigmentation, white hair and no pigment in the iris (appears red from light reflecting off retinal blood vessels).
There are several factors that contribute to visual impairment in oculocutaneous albinism, but the most important is poor development of the fovea.
Care should be taken to protect the eyes and skin from sunlight to prevent further damage and skin cancer.

Retinoblastoma is a tumour of the retina that occurs in infancy or childhood. This is caused by an inherited mutation in the Rb (retinoblastoma) tumour suppressor gene, which then randomly receives a 'double hit' to the non-mutated copy of the gene, which triggers proliferation.
Children with retinoblastoma present with a white eye reflex (loss of the normal red reflex) which parents might note on flash photography.

Retinopathy of prematurity is a cause of visual impairment in premature babies.
The mechanism of retinopathy of prematurity is thought to involve free radicals. Supplemental oxygen therapy creates free radicals which damage the retina and trigger proliferation of blood vessels on the retina. This can lead to retinal fibrosis, retinal detachment and ultimately blindness.
Indications for referral: Babies born at less than 32 weeks gestation or less than 1.5kg birth weight should be screened for retinopathy of prematurity with fortnightly fundoscopy by an ophthalmologist
Prevention: Cautious administration of supplemental oxygen
Treatment: laser therapy