RESUMO
PURPOSE: The purpose of this study was to report the clinical features and describe the results obtained by multimodal corneal imaging of a patient with novel chromosomal breakpoints of the 12q21.33 locus. METHODS: This study was a case report and literature review. RESULTS: A 12-year-old girl presented with visual loss whose examination revealed a best-corrected visual acuity of 20/50 in her right eye and 20/35 in her left eye and corneal flattening and gray sheet-like opacities deep in the stroma. Anterior segment optical coherence tomography and ultrabiomicroscopy showed an evenly distributed hyperreflective line in the posterior stroma. Confocal microscopy revealed enlarged keratocytes and the presence of small reflective deposits from the pre-Descemet line to the endothelium. In addition, a 447-kb deletion that included the small leucine-rich proteoglycan-coding region in locus 12q21.33 was found. She was, therefore, diagnosed with PACD. CONCLUSIONS: PACD is a rare genetic disorder of the cornea characterized by gray sheet-like opacification of the posterior stroma in combination with corneal flattening. Confocal microscopy provides histologic segmentation of each corneal layer and shows the degree to which they are affected. New chromosomal breakpoints of a deletion in the small leucine-rich proteoglycan-coding region are hereby reported. PACD may be a contiguous gene syndrome, and further tests are required to identify the exact position responsible for the phenotypic variation.
Assuntos
Pontos de Quebra do Cromossomo , Cromossomos Humanos Par 12/genética , Distrofias Hereditárias da Córnea/genética , Proteoglicanos Pequenos Ricos em Leucina/genética , Criança , Distrofias Hereditárias da Córnea/diagnóstico , Substância Própria/patologia , Feminino , Humanos , Microscopia Confocal , Fases de Leitura Aberta/genética , Tomografia de Coerência Óptica , Acuidade Visual/fisiologiaRESUMO
BACKGROUND: Dry eye disease (DED) is a multifactorial disease of the tears and ocular surface that results in symptoms such as discomfort, visual disturbance, and tear film instability, with potential damage to the ocular surface. The principal pathological mechanisms of DED are hyperosmolarity and inflammation. These mechanisms are deeply interrelated and lead to a self-perpetuating "vicious circle". METHODS: The objective of this review is to describe novel pharmacological and non-pharmacological treatments for DED. RESULTS: Based on the better understanding of the physiopathology of the disease, new treatment strategies have been developed. CONCLUSION: The focus of the management of DED has been taken away from just reducing symptoms and redirected towards specific targets of its physiopathology, being inflammation the most addressed topic.
