Cornea Consultant at Porto Alegre Eyes' Bank Hospital.
Ophthalmologist at Primar Clinic, Porto Alegre, Brazil.
Curr Opin Ophthalmol. 2021 Jul 1;32(4):379-384. doi: 10.1097/ICU.0000000000000764.
This study was conducted to demonstrate the importance of the environment in keratoconus (KC) genesis.
Genetic-related connective tissue disorders demonstrate the inconsistency of theories regarding KC pathogenesis since no corneal steepening was observed in the majority of these patients. Despite recent advances and decades of research into the genetics of KC, the identification of disease-causing KC genes has been frustrating. Variants found based on genome-wide and next-generation sequencing only seem to account for a small number of cases or play a limited role in KC pathogenesis.
The literature shows that mechanical manipulation may be the common underlying factor or the indispensable act precipitating the cascade of events leading to permanent corneal deformation. Hence, ophthalmologists have the opportunity to increase patient awareness about eye manipulation repercussions and treatment for ocular surface disorders.
本研究旨在证明环境在圆锥角膜（KC）发病机制中的重要性。
遗传性相关结缔组织疾病表明，KC 发病机制的理论存在不一致性，因为在大多数此类患者中并未观察到角膜变陡峭。尽管最近在 KC 的遗传学方面取得了进展和数十年的研究，但确定致病变异基因的工作却令人沮丧。基于全基因组和下一代测序发现的变异似乎仅能解释一小部分病例，或者在 KC 发病机制中仅发挥有限作用。
文献表明，机械性操作可能是共同的潜在因素或不可缺少的诱发因素，导致导致角膜永久性变形的级联事件。因此，眼科医生有机会提高患者对眼部操作后果的认识，并治疗眼表面疾病。
