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Infant with an altered light reflex

Clinical Discipline(s)/Organ System(s)
Ophthalmology, Paediatrics
Progress Test Topic(s)
A 6 week old NZ European baby boy, having his 6 week GP check-up has absence of the red reflex in the right eye. On examination the child is alert and has no objection to occlusion of the right eye, but he has objection to occlusion of his left eye. He has a full range of extraocular motility.
Applied Science for Medicine 
   - Ocular anatomy relevant to possible site of the opacity: cornea, lens, vitreous, retina
   - Pathogenesis of congenital cataract, congenital corneal opacity, retinopathy of prematurity
   - Pathogenesis of retinoblastoma
   - Describe the genetic basis of cancer; oncogenes, tumour suppressor genes, genes that control cell death, DNA repair genes
Clinical and Communication Skills 
   - Obtain an appropriate history; consider duration, history of prematurity, birth weight, ocular injury, evidence of maternal infection, other systemic conditions, family history of eye problem/operations
   - Examination including visual acuity, pupil response; assess for strabismus and nystagmus; dilate pupil and assess for lens opacities; compare ocular status of eyes
   - Differential diagnosis of strabismus.pdf' target='_blank' title='Click to go to: Ophthalmology'>strabismus.pdf' target='_blank' title='Click to go to: Ophthalmology'>leukocoria
   - Additional investigations that may be required: slit lamp examination (portable), ultrasound if the media is opaque and Retcam (fundus camera), neuroimaging for retinoblastoma, general paediatric assessment (for systemic causes), genetic/other laboratory investigations
   - Outline the management of congenital cataract
   - Long-term visual prognosis and rehabilitation following congenital cataract surgery; resources for children with visual impairment
   - Communicate with parents/family/whānau to establish relationship that will assist in adherence to management plan (postoperative correction of residual refractive error)
   - Management of amblyopia (patching or atropine); consider effect on school performance of visual disability/hospital attendance
Personal and Professional Skills 
   - Empathetic communication with family/whānau and sensitivity to parental anxiety which ensues when the possibility of an abnormality is raised
Hauora Māori 
   - Appropriate engagement and consultation with whānau
Population Health 
   - Epidemiology of congenital cataract
Conditions to be considered relating to this scenario
congenital cataract, retinoblastoma, retinopathy of prematurity and its stages, persistent hyperplastic primary vitreous, vitreous hemorrhage, toxocariasis, Coats disease
chorioretinal colobomas, other tumours e.g. choroidal haemangioma