3 research outputs found
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
Macular dystrophies (MDs) consist of a heterogeneous
group of disorders that are characterised by bilateral
symmetrical central visual loss. Advances in genetic
testing over the last decade have led to improved
knowledge of the underlying molecular basis. The
developments in high-resolution multimodal retinal
imaging have also transformed our ability to make
accurate and more timely diagnoses and more sensitive
quantitative assessment of disease progression, and
allowed the design of optimised clinical trial endpoints
for novel therapeutic interventions. The aim of this review
was to provide an update on MDs, including Stargardt
disease, Best disease, X-linked r etinoschisis, pattern
dystrophy, Sorsby fundus dystrophy and autosomal
dominant drusen. It highlights the range of innovations
in retinal imaging, genotype–phenotype and structure–
function associations, animal models of disease and the
multiple treatment strategies that are currently in clinical
trial or planned in the near future, which are anticipated
to lead to significant changes in the management of
patients with MDs