Colour vision deficiency and inherited retinal disease: Case

Framing the case

This ten-month-old infant has the classic presentation of a severe congenital retinal dystrophy, the roving eye movements, the nystagmus and the poor fixation with the otherwise normal development, and the framework that organises the case is the electroretinography, the molecular genetic testing and the RPE65 Leber congenital amaurosis. The contrast with the older brother, who carries the benign red-green colour vision deficiency, is the contrast the examiner will probe, because the brother has the stable defect of the normal acuity while the infant has the severe vision loss of the congenital dystrophy. The first priority is the prompt referral to the paediatric ophthalmology service for the electroretinography and the genetic testing, because the treatable RPE65 form must not be missed. ^[1][3]

Confirming the diagnosis

The ophthalmology service performs the full-field electroretinography, which shows the near-absent rod and cone response, and the pattern electroretinography of the macular pathway, which is also severely reduced. The optical coherence tomography assesses the viability of the retinal cells, which the gene therapy demands, and the fundus autofluorescence maps the retained retina. The molecular genetic testing by the next-generation sequencing panel of the inherited retinal disease genes identifies the biallelic RPE65 mutation, which is the result that opens the door to the gene therapy. The candidate who holds the electrophysiology, the imaging and the panel as the three pillars of the diagnosis earns the marks. ^[1][9]

The contrast with the colour-deficient brother