New OCT and OCTA Insights in Inherited Retinal Dystrophies

Abstract

Optical coherence tomography (OCT) and OCT angiography (OCTA) radically changed the diagnostics of inherited retinal dystrophies (IRD), providing new information regarding the microstructural changes occurring in each disease. The introduction of quantitative metrics provided even more steps forward in the understanding of IRD pathogenesis and course, allowing to propose new ways to categorize different subgroups of patients, characterized by remarkably different characteristics and prognosis. All these informations provided insights regarding how heterogeneous the clinical spectrum of IRD is. In the present study, we provide an updated description of OCT and OCTA findings in the main IRD, including retinitis pigmentosa, Stargardt disease, and Best vitelliform macular dystrophy. Moreover, we discuss imaging findings in pigmented paravenous retinochoroidal atrophy, a rare condition that is undergoing even growing scientific and clinical interest. In addition, we provided a brief updated scenario on imaging findings in pattern dystrophies. We discuss in detail the current state-of-the-art and the new insights provided by quantitative OCT and OCTA approaches, offering a complete description that might be helpful both for expert and nonexpert researchers interested in IRD.