• 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. (bmj.com)
  • This review provides an update on monogenic MD and discusses the the most common subtypes, including Stargardt disease (STGD), Best disease (BD), X-linked retinoschisis (XLRS), autosomal dominant drusen (ADD), Sorsby fundus dystrophy (SFD) and pattern dystrophy (PD). (bmj.com)
  • Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. (bmj.com)
  • Macular dystrophies (MDs) are a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. (bmj.com)
  • 1 While the fundus findings may be predominantly located at the central retina, in the vast majority of MDs there is psychophysical, electrophysiological or histopathological evidence of more widespread, generalised retinal involvement. (bmj.com)
  • however, advanced findings may include any combination of optic nerve pallor, attenuated retinal vasculature, retinal pigment epithelial changes and vitreous cells. (reviewofophthalmology.com)
  • 31 The electroretinography findings in CAR are illustrative of global retinal dysfunction, with severely reduced, if not extinguished, scotopic and photopic a- and b-waves. (reviewofophthalmology.com)
  • 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. (bmj.com)
  • 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. (bmj.com)
  • Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium (RPE). (nih.gov)
  • We present a case of a patient with Gaucher disease Type 3 who had severe bilateral vitreous and extensive retinal deposits, leading to challenges during surgery. (bvsalud.org)
  • We focus on the challenges and results of surgery for severe bilateral vitreous and extensive retinal deposits. (bvsalud.org)