Childhood retinal dystrophies are highly heterogeneous

A study published in the British Journal of Ophthalmology has defined the heterogeneous nature of retinal disorders.

Professor Jungoo S. Rahi et al., MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK, conducted a prospective, cross-sectional study on children with hereditary retinal disorders. Clinical and socio-demographic data was gathered on all patients at point of diagnosis and 9 months after using standardised questionnaires.

Of the children studied, 241 presented with 24 individual diagnoses, 14% had further systematic disorders and 13% had dual sensory impairment. The most frequent occurring mode of inheritance was autosomal recessive. It was found that hereditary conditions were most common in males, Asians and those living in socio-economic deprivation.

The findings have provided information on disease incidence, distributions and management. The results of the study can be used to develop novel therapies and to plan potential treatment programs.