The Health-Related Quality of Life of Children with Hereditary Retinal Disorders and the Psychosocial Impact on Their Families

PURPOSE: Childhood-onset hereditary retinal disorders comprise a group of visually disabling conditions with variable onset and progression of visual impairment. Their impact on the health-related quality of life (HRQoL) of affected individuals, as well as the broader impact on their families has not been investigated previously. METHODS: In a cross-sectional study, a generic age-appropriate instrument, the PedsQL, was used to assess self-reported HRQoL in a subsample of a representative group of children with hereditary retinal disorders and their siblings as well as parental (proxy) assessment of HRQoL of their affected children. In addition, parents reported the broader impact and effect on functioning of the family using the PedsQL Family Impact Module. RESULTS: Affected children (n = 44) reported worse HRQoL than their unaffected siblings (n = 34) and notably, also worse scores than those reported by children with various serious chronic systemic disorders. On average, parents assessed their child's HRQoL to be worse than that self-reported by the child. There was an overall adverse impact on the family and its functioning, although siblings did not report impaired HRQoL themselves. CONCLUSIONS: This study demonstrates the significant impact, on both affected children and their families, of living with an untreatable, often progressive, and sometimes blinding ophthalmic disorder. It highlights the importance of support for affected individuals and their families, which may be targeted through use of generic or vision-related quality-of-life instruments for children as the latter become more widely available. Assessment of HRQoL would also be an important outcome measure in clinical trials of novel therapies for hereditary retinal disorders.