Rare Diseases of the Anterior Segment of the Eye: Update on Diagnosis and Management

摘要: This special issue is focused on the current approaches used to identify and manage rare diseases of anterior segment eye, which range from congenital acquired disorders that are caused by ocular or systemic conditions often have consequences extend beyond eye. Specifically, groups Dr. R. Cascella et al. G. L. Scuderi provided a complete overview primary glaucoma pediatric glaucoma, respectively, diagnosis treatment outcomes; D. Dobrowolski B. E. Ramirez described use oral mucosa stem cell therapy, for surface reconstruction in such as aniridia; F. Mantelli colleagues reviewed management corneal anesthesia neurotrophic keratitis; A. K. Nowinska compared different tomographic evaluate dystrophies; M. Oldak S. P. Patel explained pathophysiology Fuchs endothelial dystrophy hereditary dystrophy, respectively; Sacchetti provide guide diagnose iridocorneal (ICE) syndrome; Abdolrahimzadeh series ophthalmic alterations may lead glaucoma; Suarez how environmental agents can influence disease, climatic droplet keratopathy. As be seen variety topics presented this issue, grouped under umbrella term eye considered quite heterogenous numerous and, turn, represent substantial clinical burden worldwide basis [1]. In fact, although single rarely encountered practice, when taken together, they not seldom seen. addition, these challenge due paucity specific diagnostic criteria lack treatments. tend remain orphan drug indications difficulty running trials, surgical inadequate concomitant anatomical anomalies. To make picture even more difficult manage, severely impair vision. while opacities iris anomalies directly affect visual function, several angle induce with consequent damage optic nerve. also associated facial other malformations intraocular structures, making group particularly complex ophthalmologist, who encounters obstacles patients' [2]. The recent advances translational research, reshaping modern ophthalmology, allowed identifying link between phenotypes mutations genes regulating normal formation maturation segments [3]. our ability understand pathogenesis has improved recently, novel treatments being proposed selected segment. For instance, biotechnology pharmaceutical development recombinant human molecules well procedures ex vivo expansion limbal cells soon open therapeutic perspectives patients previously untreatable [4, 5]. Similarly, pre- posttest genetic counseling plays an essential role achievement appropriate terms medical, social, psychological impact disease [6]. Nevertheless, complexity most ranging dystrophies, keratitis, anomalies, further progress mandatory exert significant natural history [7–10]. Hopefully, constant growth tools, accompanied better understanding pathophysiology, will foster preclinical research area high medical need. Alessandro Lambiase Flavio Mantelli Marta Sacchetti Siavash Rahimi Giacomina Massaro-Giordano