A Rare Condition: The Impact of Coats Disease on Vision

Abstract

Coats disease is an attenuate ocular vasculopathy illustrated by the accumulation of fluid in the intra-retinal along subretinal space, primarily affecting young males. Although the underlying cause of the disease remains unknown, research has made significant progress in understanding its prevalence, morphology, patient variables, and history. Diagnosis can be challenging, but a range of imaging techniques, including optical coherence tomography (OCT), OCT angiography, ultrasonography, fluorescein angiography, Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) can assist in differential diagnosis and management. Mutations in the norrin deficiency protein (NDP) gene, causing norrin deficiency, are linked to the disorder, with the high male-to-female ratio due to incomplete X-inactivation in females. New therapeutic options, including investigational and standard therapies, have been developed, with ranibizumab showing promising results in previous studies. Standard therapies include cryotherapy, laser photocoagulation, and intravitreal steroids and/or vascular endothelial growth factor (VEGF) injections. Surgical intervention is recommended for retinal detachment (stage 3A or above), with asymptomatic, blind, and depressed stage 5 Coats patients monitored but not requiring treatment. Further research is needed to develop more effective treatments and improve patient outcomes.