TY  - INPR
UR  - https://doi.org/10.1136/bjophthalmol-2019-315086
ID  - discovery10086244
N2  - 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.
TI  - Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
N1  - © Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ.
This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
JF  - British Journal of Ophthalmology
A1  - Rahman, N
A1  - Georgiou, M
A1  - Khan, KN
A1  - Michaelides, M
AV  - public
Y1  - 2019/11/08/
ER  -