LAUSR

Abstract Inherited retinal dystrophies (IRD) are a diverse group of progressive blinding genetic diseases that can present from birth through to late middle age. Symptoms include loss of night vision, visual field, colour, and central acuity. Sophisticated imaging modalities and electrophysiology permit genotype–phenotype correlations. The genetics are increasingly understood and have led to the development of gene therapy programmes, one of which is now a licensed treatment. Identifying these patients and establishing a genotype early is now of greater significance given the potential for treatment. It is important for paediatricians to understand the risk of systemic associations and equally, the developmental impact of blindness; supporting patients and families together with ophthalmology is vital.