Childhood macular dystrophies

The aim of this review is to highlight recent advances in our understanding of the molecular genetic basis and phenotype of childhood onset macular dystrophies and to summarize current attempts to develop novel therapies for this group of disorders.

The genes associated with the major causes of childhood onset macular dystrophies have now been identified and current research efforts have been focused on understanding the function of the encoded protein, how the mutant protein leads to photoreceptor cell death and investigation of the range of retinal phenotypes that result from mutations in these genes. Assessment of the phenotype has been greatly helped by improvements in retinal imaging such as spectral domain optical coherence tomography and fundus autofluorescence imaging. The development of animal models has, despite their limitations, helped understanding of disease mechanisms and allowed assessment of new therapeutic approaches such as gene replacement therapy and pharmacological treatments.

Molecular diagnosis and improvements in retinal imaging have greatly improved the accuracy of diagnosis in paediatric macular disease and allowed better genetic counselling and information about prognosis to be given to children and their families. Advances in basic understanding of disease mechanism will lead to the development of clinical trials of novel therapies in the near future.