摘要： Introduction: Keratoconus and ectatic corneal diseases represent a hot area of research. The need to enhance diagnosis in order to recognize milder forms of the disease and identify inherent predisposition for ectasia progression has gained significant importance because of refractive surgery and also due to the development of new treatment modalities to treat ectatic corneal diseases. This article discusses the nomenclature related to the diagnostic tests used to characterize keratoconus and ectatic corneal diseases, providing a prospective discussion on the latest developments for the diagnosis and follow up of these conditions, including imaging modalities, biomechanical assessments, and an outlook in genetics and molecular biology. Areas covered: We performed an extensive Pubmed literature search, considering the latest developments in the diagnosis of keratoconus and additional ectatic corneal diseases. Expert Commentary: Corneal ectasia is characterized by biomechanical failure and stromal thinning, causing corneal bulging with subsequent visual impairment due to irregular astigmatism. Moderate and advanced stages are easily recognized, but the identification of mild or subclinical forms remains a challenge. Keratoconus is the most common ectatic corneal disease, being a bilateral, typically asymmetric and progressive corneal dystrophy. Corneal ectasia may occur unilaterally due to the impact from the environment, such as eye rubbing. The advent of refractive surgery and the development of new treatment modalities augmented the need for the diagnosis of milder forms of ectatic corneal disease and to document ectasia progression. Placido disc based corneal topography is sensitive to detect mild ectatic patterns in patients with relatively normal DCVA and biomicroscopy. However, the limitations of this technology are realized by the occurrence of post-refractive keratectasia despite normal anterior curvature maps and cases with suspicious topographic patterns that proceeded with LCV, based on advanced corneal imaging, resulting in documented stable outcomes. Corneal tomography, biomechanical assessment, and ocular wavefront analysis are among the diagnostic tools that enhance our ability to diagnose milder stages of keratoconus, or, even, to characterize ectasia susceptibility. Artificial intelligence and machine learning algorithms have been successful to integrate data and develop novel more accurate indices with enhanced sensitivity and specificity. This article discusses the latest developments in the diagnosis of keratoconus, including imaging modalities, biomechanical assessments, and an outlook in genetics and molecular biology.