Multiple epiphyseal dysplasia (MED) is a phenotypically heterogeneous disease associated with orthopedic abnormalities among other systemic manifestations. While the spectrum of ocular abnormalities in this disorder is yet to be fully reported, MED has been rarely associated in the literature with the development of cataracts and keratoconus. Here, we report a case of bilateral massager-induced anterior subcapsular cataracts and keratoconus in a 46-year-old female with MED. This case presentation aims to prevent similar occurrences of inappropriate massaging device use and highlight potential ocular findings in MED patients.

The eye is regarded as an immune privileged site. Since the presence of a vasculature would impair vision, the vasculature of the eye is located outside of the central light path. As a result, many regions of the eye evolved mechanisms to deliver immune cells to sites of dysgenesis, injury, or in response to the many age-related pathologies. While the purpose of these immune responses is reparative or protective, cytokines released by immune cells compromise visual acuity by inducing inflammation and fibrosis. The response to traumatic or pathological injury is distinct in different regions of the eye. Age-related diseases impact both the anterior and posterior segment and lead to reduced quality of life and blindness. Here we focus attention on the role that inflammation and fibrosis play in the progression of age-related pathologies of the cornea and the lens as well as in glaucoma, the formation of epiretinal membranes, and in proliferative vitreoretinopathy.

OBJECTIVE: Fibrosis is a complex process involved in multiple diseases that result in organ injury and failure. Cataract, one common form of ocular fibrosis, is a main cause of blindness worldwide, and surgery may be the only cure. In this regard, epithelial-mesenchymal transition (EMT) of lens epithelial cells (LECs) is the primary cause of anterior subcapsular cataract (ASC). This study aimed to investigate the mechanism by which 2\',3\'-cyclic-nucleotide 3\'-phosphodiesterase (CNPase) regulates the function of EMT in LECs.
METHODS: A mouse model of ASC was used to observe the expression of CNPase in the lens and correlate its expression changes with lens EMT. Furthermore, the effects of CNPase on cell migration and cell proliferation were evaluated by transwell migration, wound healing and EdU staining assays. Finally, Western blotting and immunofluorescence were used to assess the mechanical properties potentially involved in the regulation of EMT by CNPase.
RESULTS: The expression of CNPase was upregulated in LECs during the EMT process in mice with ASC. Notably, CNPase significantly promoted the proliferation, migration and EMT of LECs in vitro. Interestingly, the EMT-promoting mechanism of CNPase may be achieved by targeting the Notch signalling pathway.
CONCLUSIONS: Considering the involvement of EMT in ASC, both CNPase and the Notch signalling pathway may be therapeutic targets for the treatment of cataracts.